2-220116926-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220116926
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220116926
    reference: chr 2
allele count: 1
allele frequency: 8.275405494869249e-6
allele num: 120840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.36G>A
  hgvsp: ENST00000425551.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-16G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-881G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.47-491G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.30G>A
  hgvsp: ENST00000248437.4:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.99G>A
  hgvsp: ENST00000456818.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.88G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.88G>A
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17598
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly10Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

2-220116963-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220116963
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220116963
    reference: chr 2
allele count: 2
allele frequency: 1.717652312818839e-5
allele num: 116438
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-11C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-42-11C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.73-11C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-11C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-918C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-11C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.47-528C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-11C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.10-11C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-11C>T
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-220116966-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220116966
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220116966
    reference: chr 2
allele count: 7
allele frequency: 6.028142815314927e-5
allele num: 116122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.10-14T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-14T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.73-14T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-14T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-14T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-42-14T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-14T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.47-531T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-14T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-921T>C
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27109
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8594
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14535
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7642
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-220116978-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220116978
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220116978
    reference: chr 2
allele count: 2
allele frequency: 1.75561797752809e-5
allele num: 113920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-26C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-26C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-933C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-42-26C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-26C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-26C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.47-543C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-26C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.10-26C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.73-26C>A
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17797
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-220116986-CCCACAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220116986
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220116980
    reference: chr 2
allele count: 1
allele frequency: 8.895689149038376e-6
allele num: 112414
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-40_-42-35delATGTGG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-947_-84-942delATGTGG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-40_4-35delATGTGG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.10-40_10-35delATGTGG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-40_62-35delATGTGG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.47-557_47-552delATGTGG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-40_-42-35delATGTGG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-40_62-35delATGTGG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-42-40_-42-35delATGTGG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.73-40_73-35delATGTGG
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: CCCACAT
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-220116988-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220116988
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220116988
    reference: chr 2
allele count: 1
allele frequency: 8.923950097271056e-6
allele num: 112058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-36G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-943G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-42-36G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.47-553G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.10-36G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-36G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.73-36G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-36G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-36G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-36G>T
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14769
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8393
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-220116999-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220116999
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220116999
    reference: chr 2
allele count: 1
allele frequency: 9.204882269555772e-6
allele num: 108638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.73-47C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-47C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-954C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.47-564C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-47C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-42-47C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-47C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-47C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-47C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.10-47C>T
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11056
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3857
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

2-220117000-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220117000
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220117000
    reference: chr 2
allele count: 1
allele frequency: 9.301979461229349e-6
allele num: 107504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.73-48A>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-955A>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.47-565A>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-48A>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-48A>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-48A>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.10-48A>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-48A>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-48A>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-42-48A>G
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17998
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7992
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

2-220117003-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220117003
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220117004
    reference: chr 2
allele count: 4
allele frequency: 3.832298612707902e-5
allele num: 104376
alternate allele: TC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-52dupG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-52dupG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.10-52dupG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.73-52dupG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-52dupG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-52dupG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.47-569dupG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-42-52dupG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-52dupG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-959dupG
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17291
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4994
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5943
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS

2-220117458-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220117458
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220117458
    reference: chr 2
allele count: 2435
allele frequency: 1.587146395515578e-1
allele num: 15342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.47-1023C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.72+260C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-506C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-43+473C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-506C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-506C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.9+43C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-506C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-506C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-1413C>T
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 2.5e0
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 2.25e1
  variant carriers: 505
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.5e0
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 2.75e1
  variant carriers: 348
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 1.75e1
  variant carriers: 560
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 1.25e1
  variant carriers: 320
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 3.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.25e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 3857
  bin: 7.5e0
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 6.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.25e1
  variant carriers: 24
num of homozygotes: 226
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/2-220117476-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220117476
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220117475
    reference: chr 2
allele count: 11
allele frequency: 6.88791484032561e-4
allele num: 15970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-1432delG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-43+454delG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.9+24delG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-525delG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-525delG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-525delG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.47-1042delG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.72+241delG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-525delG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-525delG
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
reference allele: AC
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS

2-220117477-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220117477
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220117477
    reference: chr 2
allele count: 1
allele frequency: 6.243756243756244e-5
allele num: 16016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-1432G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-43+454G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-525G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-525G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.9+24G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-525G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-525G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.47-1042G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.72+241G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-525G>C
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

2-220117484-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220117484
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220117484
    reference: chr 2
allele count: 1
allele frequency: 6.16827041697508e-5
allele num: 16212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.9+17T>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-532T>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-532T>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-1439T>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-532T>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-532T>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-532T>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-43+447T>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.72+234T>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.47-1049T>A
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4087
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-220117526-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220117526
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220117526
    reference: chr 2
allele count: 5
allele frequency: 3.042843232716651e-4
allele num: 16432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-574G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-574G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-574G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.-17G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-574G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.72+192G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+1052G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-574G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-1481G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-43+405G>T
  variant of: http://identifiers.org/hgnc/12407
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-220117529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220117529
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220117529
    reference: chr 2
allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.72+189C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+1049C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-577C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-577C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-577C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-43+402C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-577C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-577C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-1484C>T
  variant of: http://identifiers.org/hgnc/12407
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-220117671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220117671
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220117671
    reference: chr 2
allele count: 1
allele frequency: 6.820351930159596e-5
allele num: 14662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.-162C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-1626C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+907C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-719C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-719C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-719C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.72+47C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-43+260C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-719C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-719C>T
  variant of: http://identifiers.org/hgnc/12407
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 6.75e1
  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: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum

2-220117686-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220117686
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220117686
    reference: chr 2
allele count: 3
allele frequency: 2.050861361771944e-4
allele num: 14628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+892T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-734T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-1641T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-734T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-734T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.72+32T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.-177T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-734T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-43+245T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-734T>C
  variant of: http://identifiers.org/hgnc/12407
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-220117701-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220117701
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220117701
    reference: chr 2
allele count: 160
allele frequency: 1.346348030966005e-2
allele num: 11884
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-749A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.-192A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-749A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-1656A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-43+230A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-749A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-749A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.72+17A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-749A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+877A>C
  variant of: http://identifiers.org/hgnc/12407
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 6.75e1
  variant carriers: 7
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

2-220117706-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220117706
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220117706
    reference: chr 2
allele count: 1
allele frequency: 6.844626967830253e-5
allele num: 14610
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-754C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-754C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000404740
  ensembl transcript: ENST00000425551
  gene symbol: TUBA4A
  hgvsc: ENST00000425551.1:c.-197C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-754C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-43+225C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-754C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-754C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.72+12C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-1661C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+872C>G
  variant of: http://identifiers.org/hgnc/12407
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

2-220117718-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220117718
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220117718
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 14608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.62-766G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-43+213G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-766G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.4-766G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+860G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-1673G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-766G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.72G>A
  hgvsp: ENSP00000416992.1:p.Trp24Ter
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.62-766G>A
  variant of: http://identifiers.org/hgnc/12407
canonical: false
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Trp24Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-220117780-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220117780
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220117779
    reference: chr 2
allele count: 134
allele frequency: 9.173055859802848e-3
allele num: 14608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-1736delC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-829delC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.9delC
  hgvsp: ENSP00000416992.1:p.Ile4SerfsTer173
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-829delC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+797delC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+797delC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+797delC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+797delC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-43+150delC
  variant of: http://identifiers.org/hgnc/12407
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile4SerfsTer173
num of homozygotes: 2
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: TG
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-220117793-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220117793
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220117793
    reference: chr 2
allele count: 1
allele frequency: 6.851192107426693e-5
allele num: 14596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-1748C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+785C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+785C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-841C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.-4C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+785C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+785C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-841C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-43+138C>A
  variant of: http://identifiers.org/hgnc/12407
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-220117797-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220117797
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220117797
    reference: chr 2
allele count: 1
allele frequency: 6.850253459377997e-5
allele num: 14598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-1752G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+781G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.-8G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+781G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+781G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-845G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-845G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+781G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-43+134G>T
  variant of: http://identifiers.org/hgnc/12407
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-220117815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220117815
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220117815
    reference: chr 2
allele count: 1
allele frequency: 6.853070175438596e-5
allele num: 14592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-42-863G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396061
  ensembl transcript: ENST00000447205
  gene symbol: TUBA4A
  hgvsc: ENST00000447205.1:c.-43+116G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+763G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-1770G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+763G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+763G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+763G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000416992
  ensembl transcript: ENST00000456818
  gene symbol: TUBA4A
  hgvsc: ENST00000456818.1:c.-26G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-863G>A
  variant of: http://identifiers.org/hgnc/12407
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-220118081-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118081
    reference: chr 2
allele count: 10
allele frequency: 9.066183136899365e-4
allele num: 11030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+497C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1129C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2036C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.117G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.117G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+497C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+736C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+497C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.117G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+497C>T
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

2-220118081-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118081
    reference: chr 2
allele count: 25
allele frequency: 2.266545784224841e-3
allele num: 11030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2036C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+497C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+736C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.117G>C
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.117G>C
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1129C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+497C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+497C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.117G>C
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+497C>G
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-220118081-G-GGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118083
    reference: chr 2
allele count: 1
allele frequency: 9.066183136899366e-5
allele num: 11030
alternate allele: GGC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.118_119insCG
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.118_119insCG
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2037_-84-2036insGC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+735_-43+736insGC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+496_3+497insGC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+496_61+497insGC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.118_119insCG
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1130_-42-1129insGC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+496_46+497insGC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+496_61+497insGC
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

2-220118081-G-GGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118083
    reference: chr 2
allele count: 1
allele frequency: 9.066183136899366e-5
allele num: 11030
alternate allele: GGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1130_-42-1129insAC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+735_-43+736insAC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.118_119insTG
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+496_61+497insAC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.118_119insTG
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+496_46+497insAC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+496_61+497insAC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.118_119insTG
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2037_-84-2036insAC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+496_3+497insAC
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-220118081-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118081
    reference: chr 2
allele count: 1
allele frequency: 9.066183136899366e-5
allele num: 11030
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+497C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+736C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+497C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1129C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+497C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.117G>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.117G>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.117G>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+497C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2036C>A
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

2-220118082-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118082
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118082
    reference: chr 2
allele count: 1
allele frequency: 9.057971014492754e-5
allele num: 11040
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+496C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+496C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+735C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2037C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+496C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1130C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.118G>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.118G>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+496C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.118G>T
  variant of: http://identifiers.org/hgnc/18637
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  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: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

2-220118084-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118084
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118084
    reference: chr 2
allele count: 1
allele frequency: 9.030160736861116e-5
allele num: 11074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.120G>C
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.120G>C
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1132C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+733C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+494C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+494C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.120G>C
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2039C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+494C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+494C>G
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-220118084-G-GGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118084
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118086
    reference: chr 2
allele count: 1
allele frequency: 9.030160736861116e-5
allele num: 11074
alternate allele: GGC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+493_46+494insGC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.121_122insCG
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+493_3+494insGC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.121_122insCG
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+493_61+494insGC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+493_61+494insGC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1133_-42-1132insGC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2040_-84-2039insGC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.121_122insCG
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+732_-43+733insGC
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-220118084-G-GGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118084
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118086
    reference: chr 2
allele count: 1
allele frequency: 9.030160736861116e-5
allele num: 11074
alternate allele: GGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+493_61+494insAC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2040_-84-2039insAC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.121_122insTG
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+493_46+494insAC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.121_122insTG
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+493_61+494insAC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+493_3+494insAC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+732_-43+733insAC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.121_122insTG
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1133_-42-1132insAC
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-220118084-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118084
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118084
    reference: chr 2
allele count: 1
allele frequency: 9.030160736861116e-5
allele num: 11074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+494C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.120G>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+494C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.120G>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.120G>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+494C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+733C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1132C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2039C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+494C>A
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

2-220118087-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118087
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118087
    reference: chr 2
allele count: 741
allele frequency: 2.762863534675615e-1
allele num: 2682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1135A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+730A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2042A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.123T>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.123T>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+491A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+491A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.123T>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+491A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+491A>C
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.75e1
  variant carriers: 204
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 1.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.25e1
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 4509
  bin: 2.5e0
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.25e1
  variant carriers: 47
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

2-220118090-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118090
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118090
    reference: chr 2
allele count: 214
allele frequency: 1.917562724014337e-2
allele num: 11160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.126T>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+488A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1138A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+488A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2045A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.126T>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+488A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+488A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.126T>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+727A>C
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 2.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 2.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 4
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-220118117-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118117
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118117
    reference: chr 2
allele count: 1
allele frequency: 8.628127696289905e-5
allele num: 11590
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.153A>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+461T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+461T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.153A>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+461T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1165T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+461T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+700T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.153A>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2072T>C
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

2-220118129-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118129
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118129
    reference: chr 2
allele count: 1
allele frequency: 8.555783709787816e-5
allele num: 11688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+688C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.165G>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+449C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1177C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.165G>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2084C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+449C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.165G>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+449C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+449C>A
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

2-220118134-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118134
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118134
    reference: chr 2
allele count: 3
allele frequency: 2.557108762359359e-4
allele num: 11732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2089C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+444C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+683C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+444C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.170G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+444C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.170G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.170G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+444C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1182C>T
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-220118162-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118162
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118162
    reference: chr 2
allele count: 2
allele frequency: 1.673080140538732e-4
allele num: 11954
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+416A>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2117A>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.177+21T>C
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+416A>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1210A>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.177+21T>C
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+416A>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+416A>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.177+21T>C
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+655A>G
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

2-220118529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118529
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118529
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 33710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2484C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+49C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+49C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+49C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+49C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.177+388G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+288C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.177+388G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.177+388G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1577C>T
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26048
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4438
  bin: 3.25e1
  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: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum

2-220118531-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118531
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118531
    reference: chr 2
allele count: 28691
allele frequency: 8.064253190173702e-1
allele num: 35578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1579C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+47C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+47C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+286C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.177+390G>C
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.177+390G>C
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+47C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.177+390G>C
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2486C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+47C>G
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 362
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 2.75e1
  variant carriers: 697
genotype depth: GenotypeDepth
  all individuals: 10275
  bin: 2.5e0
  variant carriers: 8200
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 2.25e1
  variant carriers: 1241
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.25e1
  variant carriers: 477
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 26158
  bin: 7.5e0
  variant carriers: 22979
genotype depth: GenotypeDepth
  all individuals: 10323
  bin: 1.25e1
  variant carriers: 9656
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 1.75e1
  variant carriers: 2867
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 9.75e1
  variant carriers: 826
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.25e1
  variant carriers: 410
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 4.75e1
  variant carriers: 1062
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 9.25e1
  variant carriers: 557
genotype quality: GenotypeQuality
  all individuals: 9532
  bin: 1.75e1
  variant carriers: 9296
num of homozygotes: 11770
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-220118532-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118532
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118532
    reference: chr 2
allele count: 1
allele frequency: 4.051863857374392e-5
allele num: 24680
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+46T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+46T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.177+391A>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1580T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2487T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.177+391A>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.177+391A>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+46T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+46T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+285T>C
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

2-220118536-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118536
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118536
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 24402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.177+395G>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+42C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+42C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+42C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1584C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+42C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+281C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2491C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.177+395G>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.177+395G>T
  variant of: http://identifiers.org/hgnc/18637
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27848
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

2-220118543-GGGGACA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118543
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118537
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 23568
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+268_-43+273delTGTCCC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+29_46+34delTGTCCC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.177+405_177+410delGACAGG
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+29_3+34delTGTCCC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.177+405_177+410delGACAGG
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+29_61+34delTGTCCC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+29_61+34delTGTCCC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.177+405_177+410delGACAGG
  variant of: http://identifiers.org/hgnc/18637
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 27888
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: GGGGACA
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

2-220118551-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118551
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118551
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 22476
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+266C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1599C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.177+410G>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+27C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2506C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+27C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+27C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.177+410G>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+27C>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.177+410G>T
  variant of: http://identifiers.org/hgnc/18637
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27996
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25367
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-220118555-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118555
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118555
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 21620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+262C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+23C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.177+414G>C
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+23C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.177+414G>C
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+23C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2510C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1603C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+23C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.177+414G>C
  variant of: http://identifiers.org/hgnc/18637
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28021
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2975
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

2-220118565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118565
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118565
    reference: chr 2
allele count: 1
allele frequency: 5.02563071665494e-5
allele num: 19898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+13C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+252C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1613C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2520C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.177+424G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.177+424G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.177+424G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+13C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+13C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+13C>T
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20125
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28255
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19223
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/2-220118569-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118569
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118569
    reference: chr 2
allele count: 1
allele frequency: 5.154639175257732e-5
allele num: 19400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+9G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+9G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+9G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1617G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+9G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+248G>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.177+428C>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.177+428C>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.177+428C>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2524G>T
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28070
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19797
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

2-220118570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118570
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118570
    reference: chr 2
allele count: 2
allele frequency: 1.056077727320731e-4
allele num: 18938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.177+429G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.3+8C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.61+8C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1618C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.177+429G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.46+8C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.61+8C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2525C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.177+429G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+247C>T
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20681
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26184
  bin: 2.25e1
  variant carriers: 0
hgvs: c.3+8C>T
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

2-220118583-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118583
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118583
    reference: chr 2
allele count: 1
allele frequency: 5.632533513574406e-5
allele num: 17754
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.177+442T>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2538A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.41A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.56A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.56A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.-3A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.177+442T>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.177+442T>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+234A>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1631A>C
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25795
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-220118590-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118590
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118590
    reference: chr 2
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2545C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1638C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.49C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.177+449G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.49C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.177+449G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.177+449G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+227C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.34C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.-10C>T
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-220118601-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118601
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118601
    reference: chr 2
allele count: 4
allele frequency: 2.65357569324665e-4
allele num: 15074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.177+460C>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.38G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.38G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.23G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.177+460C>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.-21G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.177+460C>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+216G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1649G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2556G>C
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21391
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27725
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

2-220118612-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118612
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118612
    reference: chr 2
allele count: 1
allele frequency: 7.381163271331562e-5
allele num: 13548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.27A>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+205A>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.27A>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.-32A>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.12A>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1660A>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.177+471T>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.177+471T>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2567A>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.177+471T>A
  variant of: http://identifiers.org/hgnc/18637
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30878
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29771
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

2-220118613-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118613
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118613
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 13362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.11G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.-33G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.26G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.177+472C>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.26G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2568G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.177+472C>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+204G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1661G>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.177+472C>G
  variant of: http://identifiers.org/hgnc/18637
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 30936
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19022
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12619
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-220118621-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220118621
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220118621
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 12540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.177+480C>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000462806
  gene symbol: TUBA4A
  hgvsc: ENST00000462806.1:n.18G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000375938
  ensembl transcript: ENST00000392088
  gene symbol: TUBA4A
  hgvsc: ENST00000392088.2:c.-43+196G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000498660
  gene symbol: TUBA4A
  hgvsc: ENST00000498660.1:n.3G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.177+480C>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-42-1669G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127824
  ensembl transcript: ENST00000475683
  gene symbol: TUBA4A
  hgvsc: ENST00000475683.1:n.18G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.177+480C>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000248437
  ensembl transcript: ENST00000248437
  gene symbol: TUBA4A
  hgvsc: ENST00000248437.4:c.-41G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-84-2576G>A
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18658
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5756
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

2-220131281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220131281
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220131281
    reference: chr 2
allele count: 1
allele frequency: 8.127438231469441e-5
allele num: 12304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-43+11255C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-85+11255C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.514G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.216G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.514G>A
  variant of: http://identifiers.org/hgnc/18637
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

2-220131308-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220131308
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220131308
    reference: chr 2
allele count: 49
allele frequency: 4.010476346374202e-3
allele num: 12218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-85+11228C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-43+11228C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.223+20G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.521+20G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.521+20G>A
  variant of: http://identifiers.org/hgnc/18637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

2-220131316-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220131316
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220131316
    reference: chr 2
allele count: 1
allele frequency: 8.202099737532808e-5
allele num: 12192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-85+11220C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-43+11220C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.521+28G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.521+28G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.223+28G>A
  variant of: http://identifiers.org/hgnc/18637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-220134878-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220134878
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220134878
    reference: chr 2
allele count: 1
allele frequency: 4.880429477794046e-5
allele num: 20490
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.224-46G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.522-73G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-43+7658C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-85+7658C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000486997
  gene symbol: TUBA4B
  hgvsc: ENST00000486997.1:n.226-31G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.522-78G>A
  variant of: http://identifiers.org/hgnc/18637
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27098
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7894
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-220134893-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220134893
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220134891
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 21530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-85+7641_-85+7642delAG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.522-55_522-54delCT
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-43+7641_-43+7642delAG
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.224-28_224-27delCT
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000486997
  gene symbol: TUBA4B
  hgvsc: ENST00000486997.1:n.226-13_226-12delCT
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.522-60_522-59delCT
  variant of: http://identifiers.org/hgnc/18637
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24800
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20005
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5615
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17797
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: ACT
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

2-220134919-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220134919
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220134919
    reference: chr 2
allele count: 3
allele frequency: 1.045952165120982e-4
allele num: 28682
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.224-5A>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-85+7617T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.522-32A>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-43+7617T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000486997
  gene symbol: TUBA4B
  hgvsc: ENST00000486997.1:n.236A>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.522-37A>G
  variant of: http://identifiers.org/hgnc/18637
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36042
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 1
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: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9378
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33948
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.75e1
  variant carriers: 3
hgvs: n.224-5A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

2-220134923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220134923
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220134923
    reference: chr 2
allele count: 17
allele frequency: 5.514467367328402e-4
allele num: 30828
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.224-1G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000486997
  gene symbol: TUBA4B
  hgvsc: ENST00000486997.1:n.240G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.522-28G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-85+7613C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.522-33G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-43+7613C>T
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36622
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7817
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8568
  bin: 6.25e1
  variant carriers: 0
hgvs: n.224-1G>A
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-220134932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220134932
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220134932
    reference: chr 2
allele count: 2
allele frequency: 5.602868668758405e-5
allele num: 35696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-85+7604G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000486997
  gene symbol: TUBA4B
  hgvsc: ENST00000486997.1:n.249C>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.522-24C>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.232C>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.522-19C>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-43+7604G>A
  variant of: http://identifiers.org/hgnc/12407
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35476
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5404
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

2-220134933-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220134933
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220134933
    reference: chr 2
allele count: 4
allele frequency: 1.088139281828074e-4
allele num: 36760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-85+7603C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.233G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.522-18G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-43+7603C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000486997
  gene symbol: TUBA4B
  hgvsc: ENST00000486997.1:n.250G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.522-23G>A
  variant of: http://identifiers.org/hgnc/18637
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36557
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  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: 577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5079
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10753
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

2-220134954-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220134954
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220134954
    reference: chr 2
allele count: 1
allele frequency: 2.01053520447143e-5
allele num: 49738
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.525A>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-43+7582T>C
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000486997
  gene symbol: TUBA4B
  hgvsc: ENST00000486997.1:n.271A>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.254A>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.522-2A>G
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-85+7582T>C
  variant of: http://identifiers.org/hgnc/12407
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33225
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15010
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15753
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
hgvs: n.522-2A>G
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-220134955-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220134955
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220134955
    reference: chr 2
allele count: 1
allele frequency: 1.994813484939158e-5
allele num: 50130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.526G>C
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000486997
  gene symbol: TUBA4B
  hgvsc: ENST00000486997.1:n.272G>C
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-43+7581C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-85+7581C>G
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.255G>C
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.522-1G>C
  variant of: http://identifiers.org/hgnc/18637
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33567
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 3.25e1
  variant carriers: 0
hgvs: n.522-1G>C
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-220134958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220134958
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220134958
    reference: chr 2
allele count: 3
allele frequency: 5.767899715450281e-5
allele num: 52012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-43+7578G>A
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.258C>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.524C>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.529C>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000486997
  gene symbol: TUBA4B
  hgvsc: ENST00000486997.1:n.275C>T
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-85+7578G>A
  variant of: http://identifiers.org/hgnc/12407
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  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: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33066
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16838
  bin: 6.25e1
  variant carriers: 0
hgvs: n.524C>T
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-220134974-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220134974
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220134974
    reference: chr 2
allele count: 3
allele frequency: 5.28355054596689e-5
allele num: 56780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-85+7562C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-43+7562C>T
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.545G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.274G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000486997
  gene symbol: TUBA4B
  hgvsc: ENST00000486997.1:n.291G>A
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.540G>A
  variant of: http://identifiers.org/hgnc/18637
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

2-220134976-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220134976
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220134975
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 56946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000485041
  gene symbol: TUBA4B
  hgvsc: ENST00000485041.1:n.548delG
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000490341
  gene symbol: TUBA4B
  hgvsc: ENST00000490341.1:n.277delG
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000486997
  gene symbol: TUBA4B
  hgvsc: ENST00000486997.1:n.294delG
  variant of: http://identifiers.org/hgnc/18637
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000396212
  ensembl transcript: ENST00000398989
  gene symbol: TUBA4A
  hgvsc: ENST00000398989.2:c.-85+7559delC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127824
  ensembl protein: ENSP00000408194
  ensembl transcript: ENST00000427737
  gene symbol: TUBA4A
  hgvsc: ENST00000427737.1:c.-43+7559delC
  variant of: http://identifiers.org/hgnc/12407
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000243910
  ensembl transcript: ENST00000473885
  gene symbol: TUBA4B
  hgvsc: ENST00000473885.1:n.543delG
  variant of: http://identifiers.org/hgnc/18637
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 30251
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: TG

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

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5342
bin: 6.75e1
variant carriers: 0

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

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

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

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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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: 1.503940323647958e-5
allele num: 66492
num of homozygotes: 0

BaseQRankSum
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DP
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9866
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64220
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6236
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.250468925847193e-4
allele num: 15994
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ReadPosRankSum
type: SiteQuality
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FS
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DP
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InbreedingCoeff
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-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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European (Non-Finnish)
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allele frequency: 4.683548256158866e-5
allele num: 64054
num of homozygotes: 0

African
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allele frequency: 1.017293997965412e-4
allele num: 9830
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.270378730875344e-5
allele num: 15948
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6232
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.833180568285976e-4
allele num: 10910
num of homozygotes: 0

Other
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MQ
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DP
type: SiteQuality
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VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: 1.0e-3

FS
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ClippingRankSum
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SIO_000300: -2.83e-1

MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8092
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.179245882876582e-5
allele num: 62908
num of homozygotes: 0

Latino
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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
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

FS
type: SiteQuality
SIO_000300: 3.039e0

DP
type: SiteQuality
SIO_000300: 1.21101e6

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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InbreedingCoeff
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SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-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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European (Non-Finnish)
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allele count: 1
allele frequency: 1.61025409809668e-5
allele num: 62102
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
type: Population
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QD
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SIO_000300: 8.27e0

ClippingRankSum
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DP
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-1

MQ
type: SiteQuality
SIO_000300: 4.947e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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allele frequency: 1.614987080103359e-5
allele num: 61920
num of homozygotes: 0

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

Latino
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European (Finnish)
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Other
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African
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South Asian
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East Asian
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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FS
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ClippingRankSum
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MQ
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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African
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South Asian
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Latino
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European (Finnish)
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Other
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VQSLOD
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ClippingRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1199
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.179915740037295e-5
allele num: 57916
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7234
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.060670343657191e-4
allele num: 9428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 1.066738e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

QD
type: SiteQuality
SIO_000300: 1.195e1

MQ
type: SiteQuality
SIO_000300: 6.032e1

FS
type: SiteQuality
SIO_000300: 3.297e0

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 22

GenotypeQuality
all individuals: 309
bin: 2.75e1
variant carriers: 20

GenotypeQuality
all individuals: 1205
bin: 6.25e1
variant carriers: 39

GenotypeQuality
all individuals: 1924
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 163
bin: 1.75e1
variant carriers: 31

GenotypeQuality
all individuals: 252
bin: 7.75e1
variant carriers: 42

GenotypeQuality
all individuals: 230
bin: 5.25e1
variant carriers: 35

GenotypeQuality
all individuals: 479
bin: 4.75e1
variant carriers: 38

GenotypeQuality
all individuals: 641
bin: 2.25e1
variant carriers: 18

GenotypeQuality
all individuals: 507
bin: 3.75e1
variant carriers: 20

GenotypeQuality
all individuals: 2677
bin: 9.75e1
variant carriers: 1941

GenotypeQuality
all individuals: 171
bin: 1.25e1
variant carriers: 23

GenotypeQuality
all individuals: 293
bin: 4.25e1
variant carriers: 16

GenotypeQuality
all individuals: 209
bin: 7.25e1
variant carriers: 21

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 27

GenotypeQuality
all individuals: 106
bin: 9.25e1
variant carriers: 25

East Asian
type: Population
allele count: 76
allele frequency: 1.576763485477178e-1
allele num: 482
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 645
allele frequency: 1.279761904761905e-1
allele num: 5040
num of homozygotes: 41

Latino
type: Population
allele count: 38
allele frequency: 1.328671328671329e-1
allele num: 286
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 60
allele frequency: 3.841229193341869e-2
allele num: 1562
num of homozygotes: 1

African
type: Population
allele count: 207
allele frequency: 2.3e-1
allele num: 900
num of homozygotes: 26

Other
type: Population
allele count: 21
allele frequency: 1.105263157894737e-1
allele num: 190
num of homozygotes: 1

South Asian
type: Population
allele count: 1388
allele frequency: 2.016855565242662e-1
allele num: 6882
num of homozygotes: 150

VQSLOD
type: SiteQuality
SIO_000300: 4.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.99e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.214e0

QD
type: SiteQuality
SIO_000300: 1.476e1

FS
type: SiteQuality
SIO_000300: 6.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

DP
type: SiteQuality
SIO_000300: 2.20781e5

GenotypeQuality
all individuals: 3903
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3330
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 462
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1139
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 359
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5206
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.366867140513942e-4
allele num: 7316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.106194690265487e-2
allele num: 904
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.48292e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.26e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

QD
type: SiteQuality
SIO_000300: 1.368e1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.73e-1

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4184
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1049
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3455
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.920122887864823e-4
allele num: 5208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.025e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e-1

DP
type: SiteQuality
SIO_000300: 2.49556e5

VQSLOD
type: SiteQuality
SIO_000300: -6.667e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.44e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.27e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

FS
type: SiteQuality
SIO_000300: 6.753e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

GenotypeQuality
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 390
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

African
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: 490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.901863826550019e-4
allele num: 5258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.597e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.137e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

DP
type: SiteQuality
SIO_000300: 2.54778e5

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

QD
type: SiteQuality
SIO_000300: 1.125e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.21e-2

GenotypeQuality
all individuals: 207
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3866
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.506607929515419e-3
allele num: 908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1610
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

FS
type: SiteQuality
SIO_000300: 4.045e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.289e0

QD
type: SiteQuality
SIO_000300: 1.227e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.32e-2

DP
type: SiteQuality
SIO_000300: 2.55845e5

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 207
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3828
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.876172607879925e-4
allele num: 5330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.55397e5

FS
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.29e-2

QD
type: SiteQuality
SIO_000300: 1.086e1

VQSLOD
type: SiteQuality
SIO_000300: -1.366e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.75e-1

GenotypeQuality
all individuals: 3347
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2046
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

African
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: 486
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.304801670146138e-4
allele num: 7664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -5.642e-1

QD
type: SiteQuality
SIO_000300: 1.005e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.21e-1

FS
type: SiteQuality
SIO_000300: 1.714e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.21e-2

DP
type: SiteQuality
SIO_000300: 3.37894e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

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

GenotypeQuality
all individuals: 401
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2067
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3350
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

African
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: 46
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.907837731390311e-4
allele num: 5078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.37512e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.296e0

GenotypeQuality
all individuals: 1369
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 900
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 233
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 201
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 182
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 196
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 203
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 238
bin: 5.25e1
variant carriers: 8

GenotypeQuality
all individuals: 361
bin: 7.75e1
variant carriers: 9

GenotypeQuality
all individuals: 275
bin: 8.25e1
variant carriers: 9

GenotypeQuality
all individuals: 1332
bin: 9.75e1
variant carriers: 55

GenotypeQuality
all individuals: 235
bin: 4.25e1
variant carriers: 12

GenotypeQuality
all individuals: 239
bin: 3.75e1
variant carriers: 10

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 8

GenotypeQuality
all individuals: 266
bin: 5.75e1
variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 54
allele frequency: 1.358148893360161e-2
allele num: 3976
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.787878787878788e-3
allele num: 264
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 1.923076923076923e-2
allele num: 416
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.588516746411483e-3
allele num: 836
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 1.818181818181818e-2
allele num: 110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

South Asian
type: Population
allele count: 92
allele frequency: 1.471529110684581e-2
allele num: 6252
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.78e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.022e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.164e0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

FS
type: SiteQuality
SIO_000300: 1.27116e2

QD
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e0

VQSLOD
type: SiteQuality
SIO_000300: -7.214e1

DP
type: SiteQuality
SIO_000300: 3.31834e5

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

GenotypeQuality
all individuals: 558
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1520
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2484
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 802
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.304461257500652e-4
allele num: 7666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5076
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

African
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: 486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.778e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.33e-2

DP
type: SiteQuality
SIO_000300: 3.15747e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.364e0

QD
type: SiteQuality
SIO_000300: 8.56e0

VQSLOD
type: SiteQuality
SIO_000300: -6.488e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.005e0

GenotypeQuality
all individuals: 457
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1682
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2481
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1541
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

African
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: 5076
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.15699e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.04e1

GenotypeQuality
all individuals: 542
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2550
bin: 9.75e1
variant carriers: 132

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1784
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 133
allele frequency: 1.734933472475867e-2
allele num: 7666
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5076
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

FS
type: SiteQuality
SIO_000300: 1.243e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

QD
type: SiteQuality
SIO_000300: 1.323e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

DP
type: SiteQuality
SIO_000300: 3.20009e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.65e-2

MQ
type: SiteQuality
SIO_000300: 6.003e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

GenotypeQuality
all individuals: 1545
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.305142260506395e-4
allele num: 7662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5070
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.13642e5

MQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.961e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.77e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.87e-1

MQ
type: SiteQuality
SIO_000300: 5.908e1

FS
type: SiteQuality
SIO_000300: 1.223e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.27e-1

QD
type: SiteQuality
SIO_000300: 7.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

GenotypeQuality
all individuals: 1759
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1521
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2459
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 551
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.305142260506395e-4
allele num: 7662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.59e-1

DP
type: SiteQuality
SIO_000300: 3.13184e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.92e-2

FS
type: SiteQuality
SIO_000300: 2.149e0

VQSLOD
type: SiteQuality
SIO_000300: 4.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.05e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeQuality
all individuals: 448
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

African
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: 290
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.305142260506395e-4
allele num: 7662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5066
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.11011e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.94e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.31e0

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

FS
type: SiteQuality
SIO_000300: 2.662e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.12e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

QD
type: SiteQuality
SIO_000300: 6.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.684e0

GenotypeQuality
all individuals: 238
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 2.5e0
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GenotypeQuality
all individuals: 487
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 3.25e1
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GenotypeQuality
all individuals: 421
bin: 7.75e1
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GenotypeQuality
all individuals: 491
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 507
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 413
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 6.25e1
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GenotypeQuality
all individuals: 311
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 4.75e1
variant carriers: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 7.462686567164179e-3
allele num: 134
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 2.380952380952381e-2
allele num: 378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7242
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.573e-1

QD
type: SiteQuality
SIO_000300: 1.581e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 1.535e0

DP
type: SiteQuality
SIO_000300: 1.42116e5

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.58e-1

GenotypeQuality
all individuals: 400
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 8.25e1
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GenotypeQuality
all individuals: 1629
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GenotypeQuality
all individuals: 444
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 19
allele frequency: 6.333333333333333e-3
allele num: 3000
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 7.936507936507936e-3
allele num: 378
num of homozygotes: 0

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

South Asian
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allele frequency: 2.76166804750069e-4
allele num: 7242
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 7.462686567164179e-3
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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FS
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ClippingRankSum
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QD
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ReadPosRankSum
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DP
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SIO_000300: 1.42116e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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allele frequency: 0.0e0
allele num: 3000
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: NaN
allele num: 0
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
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ClippingRankSum
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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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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South Asian
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allele frequency: 1.380834023750345e-4
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African
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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: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3000
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East Asian
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Other
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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QD
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FS
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ClippingRankSum
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BaseQRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 158
num of homozygotes: 0

South Asian
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allele frequency: 1.380834023750345e-4
allele num: 7242
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Other
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 3.58e-1

ClippingRankSum
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FS
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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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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GenotypeQuality
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East 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: NaN
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num of homozygotes: 0

South Asian
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allele frequency: 1.380071763731714e-4
allele num: 7246
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Latino
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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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VQSLOD
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ReadPosRankSum
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QD
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DP
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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European (Finnish)
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Other
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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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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African
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East Asian
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Other
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South Asian
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Latino
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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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DP
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MQRankSum
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ClippingRankSum
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QD
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VQSLOD
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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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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European (Non-Finnish)
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South Asian
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African
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East Asian
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Latino
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European (Finnish)
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DP
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: NaN
allele num: 0
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African
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allele frequency: 0.0e0
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South Asian
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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QD
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MQ
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 39

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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allele frequency: 2.140672782874618e-1
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East Asian
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allele frequency: 2.307692307692308e-1
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South Asian
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African
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allele frequency: 1.388888888888889e-1
allele num: 108
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European (Finnish)
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Other
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQ
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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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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European (Finnish)
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allele frequency: NaN
allele num: 0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.587301587301587e-2
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 2.5e-2
allele num: 120
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European (Non-Finnish)
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allele count: 79
allele frequency: 2.571614583333333e-2
allele num: 3072
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South Asian
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allele frequency: 1.782775644541964e-2
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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ClippingRankSum
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FS
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DP
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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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 1.326611833377554e-4
allele num: 7538
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Latino
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Other
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allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3216
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East Asian
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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African
type: Population
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.1012e1

QD
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VQSLOD
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DP
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: NaN
allele num: 0
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East Asian
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Other
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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allele frequency: 3.968253968253968e-4
allele num: 7560
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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DP
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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allele frequency: 4.25531914893617e-3
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East Asian
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BaseQRankSum
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InbreedingCoeff
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DP
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FS
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MQRankSum
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MQ
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ReadPosRankSum
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QD
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VQSLOD
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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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Latino
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allele frequency: 0.0e0
allele num: 2334
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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ReadPosRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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QD
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.362416107382551e-1
allele num: 596
num of homozygotes: 262

East Asian
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allele num: 2374
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Latino
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allele frequency: 8.467741935483871e-1
allele num: 2604
num of homozygotes: 927

European (Non-Finnish)
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allele frequency: 8.755000540598984e-1
allele num: 18498
num of homozygotes: 7061

South Asian
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allele frequency: 7.96105702364395e-1
allele num: 7190
num of homozygotes: 2251

African
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allele count: 1847
allele frequency: 4.578582052553297e-1
allele num: 4034
num of homozygotes: 405

Other
type: Population
allele count: 241
allele frequency: 8.546099290780141e-1
allele num: 282
num of homozygotes: 102

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.092e-1

QD
type: SiteQuality
SIO_000300: 2.883e1

DP
type: SiteQuality
SIO_000300: 6.79369e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.620000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e1

GenotypeQuality
all individuals: 19993
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15463
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8911
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 142
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1454
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.840677434530344e-5
allele num: 12754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1762
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 3.01e0

QD
type: SiteQuality
SIO_000300: 1.144e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.383e0

VQSLOD
type: SiteQuality
SIO_000300: -2.015e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.036e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.89e-2

DP
type: SiteQuality
SIO_000300: 5.79958e5

GenotypeQuality
all individuals: 45
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 723
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6410
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4454
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.94e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.56e-1

DP
type: SiteQuality
SIO_000300: 5.80949e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: -2.015e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

GenotypeQuality
all individuals: 1697
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25258
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3480
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4060
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.15e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.026e0

MQRankSum
type: SiteQuality
SIO_000300: -1.537e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 4.2e0

VQSLOD
type: SiteQuality
SIO_000300: 5.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 5.77535e5

MQ
type: SiteQuality
SIO_000300: 4.805e1

GenotypeQuality
all individuals: 1454
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3171
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
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GenotypeQuality
all individuals: 127
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GenotypeQuality
all individuals: 212
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GenotypeQuality
all individuals: 1450
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variant carriers: 0

GenotypeQuality
all individuals: 710
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GenotypeQuality
all individuals: 286
bin: 6.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 77
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GenotypeQuality
all individuals: 17629
bin: 7.5e0
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GenotypeQuality
all individuals: 101
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3956
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11968
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1684
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.434e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.33e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 5.6921e5

GenotypeQuality
all individuals: 3773
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18116
bin: 7.5e0
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GenotypeQuality
all individuals: 604
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 8.75e1
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GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 8.25e1
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GenotypeQuality
all individuals: 123
bin: 7.75e1
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GenotypeQuality
all individuals: 221
bin: 4.75e1
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GenotypeQuality
all individuals: 25419
bin: 2.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11688
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.032e1

FS
type: SiteQuality
SIO_000300: 2.156e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.43e-2

DP
type: SiteQuality
SIO_000300: 5.64687e5

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-2

GenotypeQuality
all individuals: 944
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 1574
bin: 6.25e1
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GenotypeQuality
all individuals: 970
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.25e1
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GenotypeQuality
all individuals: 111
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 6.75e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 2320
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 2.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 107
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 4.677268475210477e-4
allele num: 2138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1368
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.58985e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.19e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.63e-2

MQ
type: SiteQuality
SIO_000300: 5.915e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 1.552e0

VQSLOD
type: SiteQuality
SIO_000300: -3.775e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

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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bin: 2.5e0
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1944
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3268
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 6.622516556291391e-4
allele num: 1510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10924
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.72e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.059e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 4.11e0

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.37e0

DP
type: SiteQuality
SIO_000300: 5.5447e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-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
all individuals: 112
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GenotypeQuality
all individuals: 106
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 7.680491551459293e-4
allele num: 1302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3200
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 6.775067750677507e-4
allele num: 1476
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.246e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.91e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

DP
type: SiteQuality
SIO_000300: 5.54604e5

FS
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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BaseQRankSum
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SIO_000300: -6.73e-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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bin: 8.75e1
variant carriers: 0

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

European (Finnish)
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allele frequency: 4.098360655737705e-3
allele num: 244
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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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

MQ
type: SiteQuality
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QD
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -4.22e-2

ClippingRankSum
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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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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.044495508669313e-4
allele num: 9574
num of homozygotes: 0

East Asian
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Latino
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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
allele num: 1140
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European (Finnish)
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allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.57e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.24e-1

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

South Asian
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allele frequency: 0.0e0
allele num: 912
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 4.50755014649538e-4
allele num: 8874
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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.179e0

MQ
type: SiteQuality
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ReadPosRankSum
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QD
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.03e-2

VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.03e-1

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 7.58e-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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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: 8046
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 970
num of homozygotes: 0

Latino
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allele frequency: 1.219512195121951e-3
allele num: 820
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.419e0

FS
type: SiteQuality
SIO_000300: 2.523e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.56e-2

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.71853e5

MQ
type: SiteQuality
SIO_000300: 5.909e1

MQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

QD
type: SiteQuality
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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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
type: Population
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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ClippingRankSum
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DP
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BaseQRankSum
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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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variant carriers: 0

European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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African
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East Asian
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Other
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MQRankSum
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DP
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MQ
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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allele num: 7562
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European (Non-Finnish)
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allele frequency: 1.185770750988142e-2
allele num: 3542
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East Asian
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allele frequency: 0.0e0
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African
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Other
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ClippingRankSum
type: SiteQuality
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FS
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BaseQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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QD
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MQRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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ClippingRankSum
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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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1839
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8021
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.383891502906172e-4
allele num: 7226
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.0391e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.513e0

QD
type: SiteQuality
SIO_000300: 1.351e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.025e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.18e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.192e-1

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 4404
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GenotypeQuality
all individuals: 3746
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7430
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.69e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.46961e5

GenotypeQuality
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bin: 4.25e1
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
all individuals: 536
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12724
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1662
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.618817852834741e-4
allele num: 8290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1060
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

QD
type: SiteQuality
SIO_000300: 1.524e1

FS
type: SiteQuality
SIO_000300: 1.564e0

VQSLOD
type: SiteQuality
SIO_000300: 4.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

DP
type: SiteQuality
SIO_000300: 5.86272e5

GenotypeQuality
all individuals: 1132
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 155
bin: 8.25e1
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GenotypeQuality
all individuals: 836
bin: 6.75e1
variant carriers: 1

Other
type: Population
allele count: 1
allele frequency: 3.184713375796179e-3
allele num: 314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 3.568369968598344e-4
allele num: 14012
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.012820512820513e-4
allele num: 1248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1840
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 1.179245283018868e-3
allele num: 8480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2052
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

FS
type: SiteQuality
SIO_000300: 1.031e0

QD
type: SiteQuality
SIO_000300: 1.392e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.175e0

DP
type: SiteQuality
SIO_000300: 6.09945e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

GenotypeQuality
all individuals: 81
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
all individuals: 241
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variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.17827265229174e-4
allele num: 16974
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3324
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

DP
type: SiteQuality
SIO_000300: 6.58538e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

FS
type: SiteQuality
SIO_000300: 5.115e0

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
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variant carriers: 0

GenotypeQuality
all individuals: 81
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 257
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GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.669577049552103e-5
allele num: 17638
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.128923007450892e-4
allele num: 8858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3404
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.11731843575419e-3
allele num: 1790
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.065e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

DP
type: SiteQuality
SIO_000300: 6.66955e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

FS
type: SiteQuality
SIO_000300: 9.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 81
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
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variant carriers: 0

GenotypeQuality
all individuals: 33705
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GenotypeQuality
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GenotypeQuality
all individuals: 267
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GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3766
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.264492753623188e-4
allele num: 4416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3212
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.017e0

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.32e-1

DP
type: SiteQuality
SIO_000300: 7.69579e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

QD
type: SiteQuality
SIO_000300: 1.336e1

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
all individuals: 266
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GenotypeQuality
all individuals: 158
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.891959212267455e-5
allele num: 25694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4444
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South Asian
type: Population
allele count: 0
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allele num: 9718
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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allele num: 9832
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East Asian
type: Population
allele count: 1
allele frequency: 2.508780732563974e-4
allele num: 3986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.45489786789921e-5
allele num: 26828
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

FS
type: SiteQuality
SIO_000300: 9.19e-1

DP
type: SiteQuality
SIO_000300: 7.89387e5

QD
type: SiteQuality
SIO_000300: 1.297e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

GenotypeQuality
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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: 163
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GenotypeQuality
all individuals: 66
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 3
allele frequency: 6.060606060606061e-4
allele num: 4950
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29716
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.899e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.19e-1

FS
type: SiteQuality
SIO_000300: 1.957e0

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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