http://identifiers.org/exac.variant/3-127396151-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396151
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396151
    reference: chr 3
allele count: 1
allele frequency: 1.532895947023116e-5
allele num: 65236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1697+22A>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*553+22A>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.110+22A>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.336+22A>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.353+225A>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.366+22A>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.336+22A>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.762+22A>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.336+22A>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.231+22A>C
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17826
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5622
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

3-127396158-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396158
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396158
    reference: chr 3
allele count: 1
allele frequency: 1.487741014044275e-5
allele num: 67216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.366+29G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*553+29G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.353+232G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.110+29G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1697+29G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.336+29G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.762+29G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.231+29G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.336+29G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.336+29G>C
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17116
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  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 depth: GenotypeDepth
  all individuals: 8359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8197
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

3-127396159-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396159
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396159
    reference: chr 3
allele count: 19
allele frequency: 2.832607788180571e-4
allele num: 67076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.336+30C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*553+30C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.336+30C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1697+30C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.762+30C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.336+30C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.110+30C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.366+30C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.353+233C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.231+30C>T
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23361
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17026
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8571
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8261
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5413
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

3-127396160-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396160
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396160
    reference: chr 3
allele count: 7
allele frequency: 1.034890597279716e-4
allele num: 67640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.336+31G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.353+234G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.762+31G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*553+31G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.336+31G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.366+31G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.110+31G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.231+31G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1697+31G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.336+31G>A
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16781
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23245
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8990
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5370
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

3-127396177-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396177
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396177
    reference: chr 3
allele count: 2
allele frequency: 2.647814229353668e-5
allele num: 75534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.336+48C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.762+48C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.353+251C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*553+48C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.110+48C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.366+48C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.336+48C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1697+48C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.336+48C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.231+48C>T
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14434
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20599
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

3-127396178-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396178
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396178
    reference: chr 3
allele count: 2
allele frequency: 2.604234485273054e-5
allele num: 76798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.110+49G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*553+49G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.353+252G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1697+49G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.336+49G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.231+49G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.366+49G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.336+49G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.762+49G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.336+49G>A
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13950
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23668
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

3-127396259-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396259
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396259
    reference: chr 3
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1698-49C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*554-49C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.111-49C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.367-49C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.763-49C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.337-49C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.337-49C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.337-49C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.353+333C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.232-49C>T
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

3-127396262-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396262
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396262
    reference: chr 3
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.337-46T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.232-46T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.111-46T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.763-46T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1698-46T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.353+336T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.337-46T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.337-46T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.367-46T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*554-46T>G
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/3-127396264-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396264
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396264
    reference: chr 3
allele count: 10
allele frequency: 8.247422680412371e-5
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*554-44C>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.232-44C>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1698-44C>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.337-44C>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.337-44C>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.367-44C>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.111-44C>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.337-44C>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.763-44C>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.353+338C>A
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13051
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-127396266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396266
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396266
    reference: chr 3
allele count: 4
allele frequency: 3.298425002061515e-5
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.367-42G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1698-42G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.763-42G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.337-42G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*554-42G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.337-42G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.337-42G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.111-42G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.232-42G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.353+340G>A
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10222
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9728
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5367
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

3-127396266-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396266
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396266
    reference: chr 3
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.232-42G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.763-42G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.337-42G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.337-42G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*554-42G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.353+340G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.367-42G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.111-42G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.337-42G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1698-42G>T
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

3-127396268-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396268
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396268
    reference: chr 3
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1698-40G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*554-40G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.232-40G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.337-40G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.111-40G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.353+342G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.763-40G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.337-40G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.337-40G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.367-40G>A
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-127396270-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396270
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396270
    reference: chr 3
allele count: 3
allele frequency: 2.473859550747106e-5
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.232-38A>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.337-38A>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1698-38A>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.367-38A>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.337-38A>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*554-38A>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.763-38A>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.337-38A>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.111-38A>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.353+344A>C
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: A
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-127396273-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396273
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396273
    reference: chr 3
allele count: 2
allele frequency: 1.649049323065253e-5
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1698-35A>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*554-35A>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.337-35A>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.763-35A>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.353+347A>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.337-35A>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.111-35A>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.232-35A>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.367-35A>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.337-35A>G
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

3-127396274-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396274
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396274
    reference: chr 3
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.337-34C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1698-34C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.367-34C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.763-34C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.337-34C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.337-34C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.111-34C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.232-34C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*554-34C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.353+348C>G
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5369
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

3-127396276-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396276
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396276
    reference: chr 3
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.367-32G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.111-32G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.353+350G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.337-32G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1698-32G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.232-32G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*554-32G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.337-32G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.763-32G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.337-32G>A
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

3-127396281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396281
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396281
    reference: chr 3
allele count: 8
allele frequency: 6.595653464366982e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.337-27G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*554-27G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.337-27G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.232-27G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1698-27G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.337-27G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.111-27G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.353+355G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.763-27G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.367-27G>A
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

3-127396285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396285
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396285
    reference: chr 3
allele count: 183
allele frequency: 1.508755729973947e-3
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.111-23G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.353+359G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*554-23G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1698-23G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.337-23G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.367-23G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.337-23G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.337-23G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.232-23G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.763-23G>A
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 9891
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 12691
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10235
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 4
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

3-127396295-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396295
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396295
    reference: chr 3
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.763-13T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.337-13T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.111-13T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.337-13T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*554-13T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1698-13T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.367-13T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.337-13T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.232-13T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-355T>G
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10265
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5401
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

3-127396297-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396297
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396297
    reference: chr 3
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1698-11C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.367-11C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.337-11C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.111-11C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-353C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.337-11C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.232-11C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.337-11C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*554-11C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.763-11C>G
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

3-127396308-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396308
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396308
    reference: chr 3
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*554G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.111G>A
  hgvsp: ENSP00000418439.1:p.Gly38Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.763G>A
  hgvsp: ENSP00000232744.8:p.Gly255Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.337G>A
  hgvsp: ENSP00000417366.1:p.Gly113Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.337G>A
  hgvsp: ENSP00000412684.2:p.Gly113Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.367G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-342G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.337G>A
  hgvsp: ENSP00000377030.3:p.Gly113Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.232G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1698G>A
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8367
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly255Ser
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD

3-127396323-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396323
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396323
    reference: chr 3
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*569C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.352C>G
  hgvsp: ENSP00000412684.2:p.Leu118Val
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.352C>G
  hgvsp: ENSP00000417366.1:p.Leu118Val
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.126C>G
  hgvsp: ENSP00000418439.1:p.Leu43Val
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.382C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.352C>G
  hgvsp: ENSP00000377030.3:p.Leu118Val
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.247C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1713C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-327C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.778C>G
  hgvsp: ENSP00000232744.8:p.Leu260Val
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu260Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

3-127396337-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396337
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396337
    reference: chr 3
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.366T>C
  hgvsp: ENST00000393363.3:c.366T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.366T>C
  hgvsp: ENST00000453791.2:c.366T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.366T>C
  hgvsp: ENST00000468137.1:c.366T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*583T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-313T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.261T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1727T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.140T>C
  hgvsp: ENST00000497162.1:c.140T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.792T>C
  hgvsp: ENST00000232744.8:c.792T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.396T>C
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18953
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Cys264Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

3-127396343-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396343
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396343
    reference: chr 3
allele count: 6
allele frequency: 4.943316635908252e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.402C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1733C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.146C>T
  hgvsp: ENST00000497162.1:c.146C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.372C>T
  hgvsp: ENST00000393363.3:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.267C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-307C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*589C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.372C>T
  hgvsp: ENST00000453791.2:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.372C>T
  hgvsp: ENST00000468137.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.798C>T
  hgvsp: ENST00000232744.8:c.798C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp266Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

3-127396344-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396344
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396344
    reference: chr 3
allele count: 5
allele frequency: 4.119430529923544e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-306G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*590G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.373G>A
  hgvsp: ENSP00000417366.1:p.Gly125Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.799G>A
  hgvsp: ENSP00000232744.8:p.Gly267Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.147G>A
  hgvsp: ENSP00000418439.1:p.Gly50Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.373G>A
  hgvsp: ENSP00000377030.3:p.Gly125Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1734G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.268G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.403G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.373G>A
  hgvsp: ENSP00000412684.2:p.Gly125Ser
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10266
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13827
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly267Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-127396351-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396351
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396350
    reference: chr 3
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.155delC
  hgvsp: ENSP00000418439.1:p.Asn52LysfsTer79
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1742delC
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*598delC
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.381delC
  hgvsp: ENSP00000377030.3:p.Asn127LysfsTer85
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.807delC
  hgvsp: ENSP00000232744.8:p.Asn269LysfsTer85
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.381delC
  hgvsp: ENSP00000417366.1:p.Asn127LysfsTer85
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.381delC
  hgvsp: ENSP00000412684.2:p.Asn127LysfsTer85
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.276delC
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-298delC
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.411delC
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn269LysfsTer85
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: AC
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

3-127396357-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396357
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396357
    reference: chr 3
allele count: 20
allele frequency: 1.647853670594051e-4
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.386G>C
  hgvsp: ENSP00000417366.1:p.Cys129Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1747G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.386G>C
  hgvsp: ENSP00000412684.2:p.Cys129Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.160G>C
  hgvsp: ENSP00000418439.1:p.Cys54Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.812G>C
  hgvsp: ENSP00000232744.8:p.Cys271Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.281G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*603G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.386G>C
  hgvsp: ENSP00000377030.3:p.Cys129Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-293G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.416G>C
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys271Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

3-127396358-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396358
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396358
    reference: chr 3
allele count: 68
allele frequency: 5.602702480019774e-4
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*604C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.417C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.387C>T
  hgvsp: ENST00000468137.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.387C>T
  hgvsp: ENST00000453791.2:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1748C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.813C>T
  hgvsp: ENST00000232744.8:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.387C>T
  hgvsp: ENST00000393363.3:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.161C>T
  hgvsp: ENST00000497162.1:c.161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.282C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-292C>T
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12777
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 10260
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys271Cys
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

3-127396364-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396364
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396364
    reference: chr 3
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.393C>T
  hgvsp: ENST00000393363.3:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.393C>T
  hgvsp: ENST00000453791.2:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.393C>T
  hgvsp: ENST00000468137.1:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.423C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-286C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1754C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.167C>T
  hgvsp: ENST00000497162.1:c.167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*610C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.819C>T
  hgvsp: ENST00000232744.8:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.288C>T
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp273Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

3-127396372-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396372
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396372
    reference: chr 3
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.431T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.401T>G
  hgvsp: ENSP00000412684.2:p.Phe134Cys
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.401T>G
  hgvsp: ENSP00000377030.3:p.Phe134Cys
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-278T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1762T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.827T>G
  hgvsp: ENSP00000232744.8:p.Phe276Cys
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*618T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.401T>G
  hgvsp: ENSP00000417366.1:p.Phe134Cys
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.296T>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.175T>G
  hgvsp: ENSP00000418439.1:p.Phe59Cys
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe276Cys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

3-127396374-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396374
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396374
    reference: chr 3
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-276C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.403C>T
  hgvsp: ENSP00000412684.2:p.Arg135Ter
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*620C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1764C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.829C>T
  hgvsp: ENSP00000232744.8:p.Arg277Ter
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.403C>T
  hgvsp: ENSP00000417366.1:p.Arg135Ter
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.177C>T
  hgvsp: ENSP00000418439.1:p.Arg60Ter
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.433C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.403C>T
  hgvsp: ENSP00000377030.3:p.Arg135Ter
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.298C>T
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg277Ter
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

3-127396375-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396375
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396375
    reference: chr 3
allele count: 116
allele frequency: 9.559756720673798e-4
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.404G>A
  hgvsp: ENSP00000377030.3:p.Arg135Gln
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.404G>A
  hgvsp: ENSP00000412684.2:p.Arg135Gln
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*621G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.404G>A
  hgvsp: ENSP00000417366.1:p.Arg135Gln
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.830G>A
  hgvsp: ENSP00000232744.8:p.Arg277Gln
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-275G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.178G>A
  hgvsp: ENSP00000418439.1:p.Arg60Gln
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.299G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1765G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.434G>A
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 8355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12727
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg277Gln
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: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

3-127396379-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396379
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396379
    reference: chr 3
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.408G>A
  hgvsp: ENST00000393363.3:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.182G>A
  hgvsp: ENST00000497162.1:c.182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.438G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-271G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*625G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.408G>A
  hgvsp: ENST00000468137.1:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.834G>A
  hgvsp: ENST00000232744.8:c.834G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.408G>A
  hgvsp: ENST00000453791.2:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1769G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.303G>A
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12729
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val278Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

3-127396391-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396391
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396391
    reference: chr 3
allele count: 6
allele frequency: 4.945924558164073e-5
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.450C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.420C>G
  hgvsp: ENSP00000377030.3:p.Ser140Arg
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.846C>G
  hgvsp: ENSP00000232744.8:p.Ser282Arg
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.420C>G
  hgvsp: ENSP00000412684.2:p.Ser140Arg
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.194C>G
  hgvsp: ENSP00000418439.1:p.Ser65Arg
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1781C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*637C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.420C>G
  hgvsp: ENSP00000417366.1:p.Ser140Arg
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.315C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-259C>G
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser282Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

3-127396395-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396395
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396395
    reference: chr 3
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.198C>G
  hgvsp: ENSP00000418439.1:p.Leu67Val
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*641C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.424C>G
  hgvsp: ENSP00000412684.2:p.Leu142Val
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.424C>G
  hgvsp: ENSP00000417366.1:p.Leu142Val
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.424C>G
  hgvsp: ENSP00000377030.3:p.Leu142Val
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1785C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.454C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.850C>G
  hgvsp: ENSP00000232744.8:p.Leu284Val
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-255C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.319C>G
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8292
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu284Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-127396410-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396410
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396410
    reference: chr 3
allele count: 3
allele frequency: 2.474104374216534e-5
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+4C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.469C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+4C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+4C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+4C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+4C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1800C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+4C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-240C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.334C>T
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: c.861+4C>T
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-127396413-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396413
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396413
    reference: chr 3
allele count: 5
allele frequency: 4.123779361309053e-5
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+7G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+7G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1803G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+7G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+7G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+7G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+7G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.337G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-237G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.472G>A
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
hgvs: c.861+7G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

3-127396413-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396413
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396412
    reference: chr 3
allele count: 2
allele frequency: 1.649511744523621e-5
allele num: 121248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+8delT
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-236delT
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+8delT
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+8delT
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.338delT
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+8delT
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1804delT
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.473delT
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+8delT
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+8delT
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6946
  bin: 6.75e1
  variant carriers: 0
hgvs: c.861+8delT
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: GT
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

3-127396414-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396414
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396414
    reference: chr 3
allele count: 148
allele frequency: 1.22063869094748e-3
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+8T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+8T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+8T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+8T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+8T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.338T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-236T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+8T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.473T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1804T>C
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8284
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12718
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10143
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10118
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: c.861+8T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD

3-127396419-T-TCCTGTTGCCCCTGGCCCCAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396419
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396439
    reference: chr 3
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: TCCTGTTGCCCCTGGCCCCAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12693
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4968
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

3-127396421-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396421
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396421
    reference: chr 3
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+15C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.345C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.480C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+15C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+15C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-229C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1811C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+15C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+15C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+15C>T
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

3-127396425-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396425
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396424
    reference: chr 3
allele count: 4
allele frequency: 3.301092661671013e-5
allele num: 121172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1816delG
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+20delG
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+20delG
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.350delG
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.485delG
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+20delG
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+20delG
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+20delG
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+20delG
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-224delG
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18754
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: TG
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

3-127396430-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396430
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396430
    reference: chr 3
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+24C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+24C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.489C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+24C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+24C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1820C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.354C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+24C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-220C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+24C>T
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6086
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10051
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

3-127396436-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396436
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396436
    reference: chr 3
allele count: 18
allele frequency: 1.487037985559209e-4
allele num: 121046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+30C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+30C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1826C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-214C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+30C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.495C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.360C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+30C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+30C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+30C>G
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9973
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12154
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4119
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

3-127396439-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396439
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396439
    reference: chr 3
allele count: 1
allele frequency: 8.266375690242371e-6
allele num: 120972
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.498G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+33G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1829G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.363G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+33G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+33G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+33G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+33G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+33G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-211G>C
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6438
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

3-127396440-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396440
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396440
    reference: chr 3
allele count: 1
allele frequency: 8.266922390132602e-6
allele num: 120964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.364C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1830C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+34C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+34C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+34C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.499C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-210C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+34C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+34C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+34C>G
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8213
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

3-127396442-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396442
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396442
    reference: chr 3
allele count: 1
allele frequency: 8.269656974628692e-6
allele num: 120924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.366C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+36C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+36C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+36C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1832C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+36C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+36C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.501C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+36C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-208C>T
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11712
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum

3-127396443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396443
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396443
    reference: chr 3
allele count: 1
allele frequency: 8.275816409288777e-6
allele num: 120834
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+37G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+37G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+37G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1833G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+37G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+37G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.367G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-207G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.502G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+37G>A
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9833
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum

3-127396446-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396446
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396446
    reference: chr 3
allele count: 1
allele frequency: 8.276912380605539e-6
allele num: 120818
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+40G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-204G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+40G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1836G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.505G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+40G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+40G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+40G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.370G>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+40G>C
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4075
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

3-127396447-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396447
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396447
    reference: chr 3
allele count: 1
allele frequency: 8.275405494869249e-6
allele num: 120840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+41C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+41C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+41C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+41C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+41C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.506C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1837C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-203C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.371C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+41C>T
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4082
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/3-127396449-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396449
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396449
    reference: chr 3
allele count: 1
allele frequency: 8.278145695364238e-6
allele num: 120800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.508C>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+43C>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+43C>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+43C>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+43C>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+43C>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1839C>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+43C>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.373C>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-201C>A
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

3-127396454-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396454
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396454
    reference: chr 3
allele count: 3
allele frequency: 2.486201581224206e-5
allele num: 120666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-196C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.513C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+48C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1844C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+48C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+48C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+48C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.378C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+48C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+48C>T
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4066
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

3-127396455-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396455
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396455
    reference: chr 3
allele count: 2
allele frequency: 1.657852417977751e-5
allele num: 120638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-195C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+49C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.379C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.514C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+49C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1845C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+49C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+49C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+49C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+49C>T
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8176
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

3-127396456-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396456
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396456
    reference: chr 3
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+50C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.515C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1846C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+50C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+50C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.380C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-194C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+50C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+50C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+50C>G
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8239
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

3-127396458-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396458
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396458
    reference: chr 3
allele count: 2
allele frequency: 1.659971448491086e-5
allele num: 120484
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.435+52C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.435+52C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1848C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.382C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.517C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-192C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.435+52C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.861+52C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.209+52C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*652+52C>G
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8088
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

3-127396468-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396468
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396468
    reference: chr 3
allele count: 2
allele frequency: 1.740008004036819e-5
allele num: 114942
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.527C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.392C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-182C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.436-51C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.210-51C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.436-51C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.862-51C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*653-51C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1858C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.436-51C>G
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 1.75e1
  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 depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-127396471-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396471
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396471
    reference: chr 3
allele count: 3
allele frequency: 2.629595217642831e-5
allele num: 114086
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.436-48A>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.395A>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.210-48A>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1861A>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.862-48A>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.436-48A>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-179A>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.530A>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.436-48A>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*653-48A>G
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  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: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14647
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33686
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

3-127396479-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396479
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396479
    reference: chr 3
allele count: 1
allele frequency: 8.899489169321681e-6
allele num: 112366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.862-40G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.538G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*653-40G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1869G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.403G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.436-40G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.436-40G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.436-40G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.210-40G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-171G>T
  variant of: http://identifiers.org/hgnc/18275
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: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

3-127396483-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396483
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396483
    reference: chr 3
allele count: 6
allele frequency: 5.383097075183922e-5
allele num: 111460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.210-36C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-167C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.407C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1873C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.436-36C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*653-36C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.862-36C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.436-36C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.542C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.436-36C>T
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21251
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14472
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9392
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

3-127396489-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396489
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396489
    reference: chr 3
allele count: 29
allele frequency: 2.63689101456655e-4
allele num: 109978
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.862-30C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.210-30C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.436-30C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.413C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1879C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.436-30C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-161C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.548C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.436-30C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*653-30C>T
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13370
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18962
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11234
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 3.25e1
  variant carriers: 6
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 quality: GenotypeQuality
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11024
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

3-127396500-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396500
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396500
    reference: chr 3
allele count: 3
allele frequency: 2.79626419104077e-5
allele num: 107286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.436-19T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.424T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.862-19T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1890T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.210-19T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.436-19T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-150T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.559T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.436-19T>C
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*653-19T>C
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12740
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

3-127396505-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396505
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396505
    reference: chr 3
allele count: 75
allele frequency: 7.078944387812889e-4
allele num: 105948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1895C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.210-14C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.429C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.862-14C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-145C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.564C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.436-14C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.436-14C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.436-14C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*653-14C>T
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14624
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13202
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13145
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4659
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13364
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

3-127396506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396506
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396506
    reference: chr 3
allele count: 18
allele frequency: 1.703093954016463e-4
allele num: 105690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*653-13C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.430C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.436-13C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.210-13C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-144C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.436-13C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1896C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.436-13C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.565C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.862-13C>T
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8668
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13389
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13103
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14625
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13537
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

3-127396507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396507
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396507
    reference: chr 3
allele count: 2
allele frequency: 1.895518993100311e-5
allele num: 105512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-143G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.436-12G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.436-12G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.431G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.210-12G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.436-12G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1897G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*653-12G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.566G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.862-12G>A
  variant of: http://identifiers.org/hgnc/18275
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13656
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8449
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

3-127396519-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396519
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396519
    reference: chr 3
allele count: 1
allele frequency: 9.679042936234465e-6
allele num: 103316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.436G>T
  hgvsp: ENSP00000377030.3:p.Ala146Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.210G>T
  hgvsp: ENSP00000418439.1:p.Ala71Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.436G>T
  hgvsp: ENSP00000417366.1:p.Ala146Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-131G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.436G>T
  hgvsp: ENSP00000412684.2:p.Ala146Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.862G>T
  hgvsp: ENSP00000232744.8:p.Ala288Ser
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.578G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1909G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*653G>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.443G>T
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12739
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala288Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

3-127396534-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396534
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396534
    reference: chr 3
allele count: 1
allele frequency: 9.915519771546425e-6
allele num: 100852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-116C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1924C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.877C>T
  hgvsp: ENSP00000232744.8:p.Arg293Cys
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*668C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.593C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.451C>T
  hgvsp: ENSP00000377030.3:p.Arg151Cys
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.225C>T
  hgvsp: ENSP00000418439.1:p.Arg76Cys
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.451C>T
  hgvsp: ENSP00000412684.2:p.Arg151Cys
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.458C>T
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.451C>T
  hgvsp: ENSP00000417366.1:p.Arg151Cys
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10764
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg293Cys
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

3-127396535-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396535
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396535
    reference: chr 3
allele count: 2
allele frequency: 1.999280259106722e-5
allele num: 100036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.452G>A
  hgvsp: ENSP00000417366.1:p.Arg151His
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*669G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.452G>A
  hgvsp: ENSP00000412684.2:p.Arg151His
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-115G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.226G>A
  hgvsp: ENSP00000418439.1:p.Arg76His
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.452G>A
  hgvsp: ENSP00000377030.3:p.Arg151His
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.459G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1925G>A
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.878G>A
  hgvsp: ENSP00000232744.8:p.Arg293His
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.594G>A
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10620
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5609
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg293His
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

3-127396542-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396542
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396542
    reference: chr 3
allele count: 13
allele frequency: 1.296577036623315e-4
allele num: 100264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsc: ENST00000393363.3:c.459C>G
  hgvsp: ENSP00000377030.3:p.Asp153Glu
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsc: ENST00000453791.2:c.459C>G
  hgvsp: ENSP00000412684.2:p.Asp153Glu
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsc: ENST00000232744.8:c.885C>G
  hgvsp: ENSP00000232744.8:p.Asp295Glu
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  hgvsc: ENST00000478298.1:n.601C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsc: ENST00000497162.1:c.233C>G
  hgvsp: ENSP00000418439.1:p.Asp78Glu
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  hgvsc: ENST00000475042.1:c.*676C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsc: ENST00000468137.1:c.459C>G
  hgvsp: ENSP00000417366.1:p.Asp153Glu
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  hgvsc: ENST00000491633.1:n.354-108C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  hgvsc: ENST00000474129.1:n.466C>G
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  hgvsc: ENST00000464431.1:n.1932C>G
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17427
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8871
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11120
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11544
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8169
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15828
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp295Glu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

3-127396544-A-ACTTCCGAGCCCTGCTGGATGACCACTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127396544
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 127396572
    reference: chr 3
allele count: 5
allele frequency: 5.00010000200004e-5
allele num: 99998
alternate allele: ACTTCCGAGCCCTGCTGGATGACCACTTC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418439
  ensembl transcript: ENST00000497162
  gene symbol: ABTB1
  hgvsp: ENSP00000418439.1:p.Arg89LeufsTer7
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000417366
  ensembl transcript: ENST00000468137
  gene symbol: ABTB1
  hgvsp: ENSP00000417366.1:p.Arg164LeufsTer7
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000418641
  ensembl transcript: ENST00000475042
  gene symbol: ABTB1
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000412684
  ensembl transcript: ENST00000453791
  gene symbol: ABTB1
  hgvsp: ENSP00000412684.2:p.Arg164LeufsTer7
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000377030
  ensembl transcript: ENST00000393363
  gene symbol: ABTB1
  hgvsp: ENSP00000377030.3:p.Arg164LeufsTer7
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000474129
  gene symbol: ABTB1
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000464431
  gene symbol: ABTB1
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000114626
  ensembl protein: ENSP00000232744
  ensembl transcript: ENST00000232744
  gene symbol: ABTB1
  hgvsp: ENSP00000232744.8:p.Arg306LeufsTer7
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000478298
  gene symbol: ABTB1
  variant of: http://identifiers.org/hgnc/18275
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114626
  ensembl transcript: ENST00000491633
  gene symbol: ABTB1
  variant of: http://identifiers.org/hgnc/18275
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 11169
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8934
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17408
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg306LeufsTer7
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 2714
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5548
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3948
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27979
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 272
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11034
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.75846849828975e-5
allele num: 36252
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.36932e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

FS
type: SiteQuality
SIO_000300: 8.82e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.03e-1

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

GenotypeQuality
all individuals: 307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3286
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28039
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2714
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1414
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5297
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5459
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37428
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.997660608241857e-5
allele num: 11114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3000
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.765e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

QD
type: SiteQuality
SIO_000300: 8.289999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-1

FS
type: SiteQuality
SIO_000300: 2.522e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.791e0

DP
type: SiteQuality
SIO_000300: 7.61868e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 334
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2697
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1066
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5204
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27780
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 460
bin: 9.75e1
variant carriers: 19

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4656
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 3.178320508531281e-3
allele num: 5978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37402
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

QD
type: SiteQuality
SIO_000300: 1.092e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 7.66773e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 329
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27585
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 165
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3028
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8488
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 3.314550878355983e-4
allele num: 6034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.326259946949602e-4
allele num: 37700
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 6.1e-1

DP
type: SiteQuality
SIO_000300: 7.74419e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

GenotypeQuality
all individuals: 1768
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24320
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 637
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2793
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13149
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4844
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1086
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.735745406326956e-5
allele num: 42232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

QD
type: SiteQuality
SIO_000300: 9.35e0

FS
type: SiteQuality
SIO_000300: 1.267e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

DP
type: SiteQuality
SIO_000300: 8.74032e5

GenotypeQuality
all individuals: 592
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4207
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4754
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 13647
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2798
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1380
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.328722462856877e-5
allele num: 42942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.710571330824495e-4
allele num: 5846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3752
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 8.90017e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e0

VQSLOD
type: SiteQuality
SIO_000300: -3.222e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.91e0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12801
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3479
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19080
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2670
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5356
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4939
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.11e0

QD
type: SiteQuality
SIO_000300: 1.45e1

FS
type: SiteQuality
SIO_000300: 1.274e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.069e-1

DP
type: SiteQuality
SIO_000300: 2.377296e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
all individuals: 13076
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4942
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6933
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5366
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 141
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3491
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19078
bin: 9.75e1
variant carriers: 1

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

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

East Asian
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: 10392
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 8.71e-1

BaseQRankSum
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SIO_000300: -6.417e0

FS
type: SiteQuality
SIO_000300: 7.877e0

QD
type: SiteQuality
SIO_000300: 1.347e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

DP
type: SiteQuality
SIO_000300: 2.378112e6

MQ
type: SiteQuality
SIO_000300: 5.927e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5361
bin: 7.75e1
variant carriers: 0

African
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allele count: 8
allele frequency: 7.699711260827719e-4
allele num: 10390
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.149e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.378743e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 5.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.424536307431204e-4
allele num: 16498
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.205e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

DP
type: SiteQuality
SIO_000300: 2.378819e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 2.824e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

QD
type: SiteQuality
SIO_000300: 1.443e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.443e1

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

DP
type: SiteQuality
SIO_000300: 2.378819e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.205e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 2.824e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.999e0

QD
type: SiteQuality
SIO_000300: 2.799e1

VQSLOD
type: SiteQuality
SIO_000300: -3.402e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.58e-1

FS
type: SiteQuality
SIO_000300: 2.495e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.379241e6

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.467406380027739e-4
allele num: 8652
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 7.09e-1

DP
type: SiteQuality
SIO_000300: 2.37969e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.461e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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BaseQRankSum
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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DP
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QD
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SIO_000300: 1.287e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

East Asian
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allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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DP
type: SiteQuality
SIO_000300: 2.380931e6

GenotypeQuality
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variant carriers: 0

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

East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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QD
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VQSLOD
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ClippingRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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SIO_000300: 4.27e-1

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

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 4.81139337952271e-4
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

Latino
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allele num: 11572
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East Asian
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FS
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ClippingRankSum
type: SiteQuality
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DP
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VQSLOD
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BaseQRankSum
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MQ
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SIO_000300: 5.947e1

ReadPosRankSum
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SIO_000300: 4.14e-1

InbreedingCoeff
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SIO_000300: 1.111e-1

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

Latino
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allele frequency: 7.776049766718507e-4
allele num: 11574
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 1.63618864292589e-2
allele num: 10390
num of homozygotes: 4

South Asian
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allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
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Other
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ReadPosRankSum
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SIO_000300: 6.31e-1

InbreedingCoeff
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SIO_000300: 2.99e-2

VQSLOD
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BaseQRankSum
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SIO_000300: -8.82e-1

FS
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SIO_000300: 0.0e0

MQRankSum
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ClippingRankSum
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MQ
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

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

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

African
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MQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

DP
type: SiteQuality
SIO_000300: 2.380445e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.383e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
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SIO_000300: 1.49e0

FS
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SIO_000300: 1.789e0

QD
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VQSLOD
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

South Asian
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Latino
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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DP
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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African
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East Asian
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South Asian
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Latino
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Other
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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QD
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FS
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MQ
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

South Asian
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East Asian
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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FS
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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DP
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 5.99592277251469e-5
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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East Asian
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Latino
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InbreedingCoeff
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MQRankSum
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QD
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DP
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FS
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ReadPosRankSum
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MQ
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VQSLOD
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BaseQRankSum
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SIO_000300: 1.09e-1

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

European (Non-Finnish)
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East Asian
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South Asian
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African
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Other
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Latino
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QD
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BaseQRankSum
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FS
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DP
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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allele num: 10404
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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Other
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South Asian
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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DP
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
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Latino
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allele num: 11572
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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African
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South Asian
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10402
num of homozygotes: 0

South Asian
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allele frequency: 2.84641472868217e-3
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European (Finnish)
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Latino
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allele num: 11572
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Other
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East Asian
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European (Non-Finnish)
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allele frequency: 2.098635886673662e-4
allele num: 66710
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DP
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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FS
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ReadPosRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

Latino
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African
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Other
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South Asian
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European (Non-Finnish)
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allele num: 66708
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East Asian
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ReadPosRankSum
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MQ
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QD
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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Other
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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QD
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MQRankSum
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DP
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MQ
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11570
num of homozygotes: 0

South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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Other
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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MQ
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QD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 116

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 113
allele frequency: 6.843507751937985e-3
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.383016e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.426e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

QD
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SIO_000300: 1.462e1

InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
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DP
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SIO_000300: 2.37494e6

ReadPosRankSum
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SIO_000300: 3.05e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 5.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.49985000299994e-5
allele num: 66668
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
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SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 6.78e-1

VQSLOD
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SIO_000300: 1.23e0

ClippingRankSum
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BaseQRankSum
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SIO_000300: -2.409e0

QD
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SIO_000300: 1.271e1

ReadPosRankSum
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SIO_000300: 4.3e-2

DP
type: SiteQuality
SIO_000300: 2.370259e6

MQRankSum
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SIO_000300: -1.49e-1

GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 1.103e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

FS
type: SiteQuality
SIO_000300: 2.926e0

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

DP
type: SiteQuality
SIO_000300: 2.370942e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.033e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.47e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.89073039121218e-4
allele num: 10378
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.367786e6

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.3622e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.44e-1

VQSLOD
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BaseQRankSum
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QD
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SIO_000300: 1.165e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

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

African
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allele count: 5
allele frequency: 4.817883985353633e-4
allele num: 10378
num of homozygotes: 0

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

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 906
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FS
type: SiteQuality
SIO_000300: 9.65e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: 1.8e-2

MQ
type: SiteQuality
SIO_000300: 5.998e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
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allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.367518e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

VQSLOD
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FS
type: SiteQuality
SIO_000300: 9.65e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
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allele frequency: 2.595155709342561e-4
allele num: 11560
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
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African
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allele count: 144
allele frequency: 1.387818041634541e-2
allele num: 10376
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

DP
type: SiteQuality
SIO_000300: 2.368165e6

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.049e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 7.99e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
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: 6598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.067e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.986e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 2.362401e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: -6.111e-1

QD
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

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

Latino
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allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.935e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.418e0

VQSLOD
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SIO_000300: -1.336e0

FS
type: SiteQuality
SIO_000300: 8.736000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.49e-1

QD
type: SiteQuality
SIO_000300: 1.901e1

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

DP
type: SiteQuality
SIO_000300: 2.36e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.462004500605851e-4
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.524e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-2

FS
type: SiteQuality
SIO_000300: 2.082e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.83e-1

MQ
type: SiteQuality
SIO_000300: 6.049e1

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.357769e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.659969088098918e-5
allele num: 10352
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.35108e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.608e0

FS
type: SiteQuality
SIO_000300: 5.958e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 5.77e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 18

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

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: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.705465039379547e-4
allele num: 66532
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.425e1

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 1.76e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.065e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 904
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Latino
type: Population
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allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10330
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.330837e6

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.701e0

QD
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504800312998465e-5
allele num: 66454
num of homozygotes: 0

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

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

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

Other
type: Population
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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VQSLOD
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SIO_000300: 7.7e-1

DP
type: SiteQuality
SIO_000300: 2.324485e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.23e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

FS
type: SiteQuality
SIO_000300: 1.675e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
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: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66414
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
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SIO_000300: -1.372e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-1

QD
type: SiteQuality
SIO_000300: 1.066e1

DP
type: SiteQuality
SIO_000300: 2.319219e6

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.402e0

MQRankSum
type: SiteQuality
SIO_000300: -7.18e-1

DP
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SIO_000300: 2.311208e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1

FS
type: SiteQuality
SIO_000300: 5.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.288e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66414
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.793e0

DP
type: SiteQuality
SIO_000300: 2.304982e6

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

QD
type: SiteQuality
SIO_000300: 1.005e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.697439875872769e-5
allele num: 10312
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 2.303487e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.717e0

MQRankSum
type: SiteQuality
SIO_000300: 7.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.049e0

QD
type: SiteQuality
SIO_000300: 2.99e0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.524068041983351e-5
allele num: 66312
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.29214e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.498e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 2
allele frequency: 1.737317581653926e-4
allele num: 11512
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66298
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 2.290386e6

FS
type: SiteQuality
SIO_000300: 1.04e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.78e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.714396735962697e-5
allele num: 10294
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 2.551e0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 169
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020326799359691e-5
allele num: 66218
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

DP
type: SiteQuality
SIO_000300: 2.290516e6

BaseQRankSum
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SIO_000300: 2.32e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.363e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5988
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.241310824230387e-4
allele num: 16112
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10864
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63316
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

MQRankSum
type: SiteQuality
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DP
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.819e0

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 62858
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9568
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 10742
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.697313285679073e-4
allele num: 8114
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.044e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.61e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.25e-1

QD
type: SiteQuality
SIO_000300: 1.566e1

DP
type: SiteQuality
SIO_000300: 1.431386e6

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.619590567504535e-5
allele num: 61744
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.593e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.282e0

QD
type: SiteQuality
SIO_000300: 1.154e1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61280
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.530120481927711e-4
allele num: 7968
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0147e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.443e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.253e1

VQSLOD
type: SiteQuality
SIO_000300: 7.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.67e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 4.303780705820036e-4
allele num: 60412
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.913187026607108e-4
allele num: 10298
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.25e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 3
allele frequency: 3.007217321571772e-4
allele num: 9976
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58844
num of homozygotes: 0

East Asian
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ReadPosRankSum
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SIO_000300: 7.36e-1

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.182722e6

FS
type: SiteQuality
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ClippingRankSum
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5188
num of homozygotes: 0

African
type: Population
allele count: 62
allele frequency: 7.088954950834668e-3
allele num: 8746
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 5.061753391374772e-4
allele num: 9878
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.298701298701299e-3
allele num: 770
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7702
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European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.20594011645936e-4
allele num: 58046
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
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DP
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MQ
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57918
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
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African
type: Population
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allele frequency: 1.147578609134726e-4
allele num: 8714
num of homozygotes: 0

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

South Asian
type: Population
allele count: 17
allele frequency: 1.08974358974359e-3
allele num: 15600
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.144054e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: 9.31e-1

FS
type: SiteQuality
SIO_000300: 4.893e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

QD
type: SiteQuality
SIO_000300: 1.414e1

GenotypeQuality
all individuals: 21742
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3297
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.4615251479802e-5
allele num: 57778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

QD
type: SiteQuality
SIO_000300: 1.015e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.38e-1

FS
type: SiteQuality
SIO_000300: 2.592e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

DP
type: SiteQuality
SIO_000300: 1.142133e6

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.432e-1

GenotypeQuality
all individuals: 14996
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5928
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.043405676126878e-4
allele num: 9584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4952
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.811e0

DP
type: SiteQuality
SIO_000300: 1.083531e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.368e0

FS
type: SiteQuality
SIO_000300: 4.964e0

GenotypeQuality
all individuals: 6509
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5668
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15670
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1574
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4375
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15626
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.21447656060238e-4
allele num: 8234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15228
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

DP
type: SiteQuality
SIO_000300: 1.033648e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

FS
type: SiteQuality
SIO_000300: 1.376e0

QD
type: SiteQuality
SIO_000300: 1.139e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.84e-1

GenotypeQuality
all individuals: 4283
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2350
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6433
bin: 3.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 196
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1059
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7374
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.319087191663369e-4
allele num: 15162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4636
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.57e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

DP
type: SiteQuality
SIO_000300: 1.034238e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQ
type: SiteQuality
SIO_000300: 5.991e1

GenotypeQuality
all individuals: 673
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1364
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GenotypeQuality
all individuals: 207
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 68
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variant carriers: 1

GenotypeQuality
all individuals: 980
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
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variant carriers: 0

GenotypeQuality
all individuals: 15527
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2273
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.367682949040178e-4
allele num: 54906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15182
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.166e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

DP
type: SiteQuality
SIO_000300: 1.020986e6

MQ
type: SiteQuality
SIO_000300: 6.0e1