12-57409581-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57409581
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57409581
    reference: chr 12
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000377445
  ensembl transcript: ENST00000393867
  gene symbol: TAC3
  hgvsc: ENST00000393867.1:c.1A>G
  hgvsp: ENSP00000377445.1:p.Met1?
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408208
  ensembl transcript: ENST00000441881
  gene symbol: TAC3
  hgvsc: ENST00000441881.1:c.1A>G
  hgvsp: ENSP00000408208.1:p.Met1?
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000416292
  ensembl transcript: ENST00000423597
  gene symbol: TAC3
  hgvsc: ENST00000423597.1:c.1A>G
  hgvsp: ENSP00000416292.1:p.Met1?
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000404056
  ensembl transcript: ENST00000458521
  gene symbol: TAC3
  hgvsc: ENST00000458521.2:c.1A>G
  hgvsp: ENSP00000404056.2:p.Met1?
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000350236
  ensembl transcript: ENST00000357616
  gene symbol: TAC3
  hgvsc: ENST00000357616.3:c.1A>G
  hgvsp: ENSP00000350236.3:p.Met1?
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166863
  ensembl transcript: ENST00000496757
  gene symbol: TAC3
  hgvsc: ENST00000496757.1:n.149A>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408131
  ensembl transcript: ENST00000438756
  gene symbol: TAC3
  hgvsc: ENST00000438756.1:c.1A>G
  hgvsp: ENSP00000408131.1:p.Met1?
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.1A>G
  hgvsp: ENSP00000402995.1:p.Met1?
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000368721
  ensembl transcript: ENST00000379411
  gene symbol: TAC3
  hgvsc: ENST00000379411.2:c.1A>G
  hgvsp: ENSP00000368721.2:p.Met1?
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000300108
  ensembl transcript: ENST00000300108
  gene symbol: TAC3
  hgvsc: ENST00000300108.3:c.1A>G
  hgvsp: ENSP00000300108.3:p.Met1?
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/12-57409592-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57409592
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57409592
    reference: chr 12
allele count: 7
allele frequency: 5.802002519726808e-5
allele num: 120648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000300108
  ensembl transcript: ENST00000300108
  gene symbol: TAC3
  hgvsc: ENST00000300108.3:c.-5-6T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000416292
  ensembl transcript: ENST00000423597
  gene symbol: TAC3
  hgvsc: ENST00000423597.1:c.-5-6T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408208
  ensembl transcript: ENST00000441881
  gene symbol: TAC3
  hgvsc: ENST00000441881.1:c.-5-6T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000368721
  ensembl transcript: ENST00000379411
  gene symbol: TAC3
  hgvsc: ENST00000379411.2:c.-5-6T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000377445
  ensembl transcript: ENST00000393867
  gene symbol: TAC3
  hgvsc: ENST00000393867.1:c.-5-6T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-5-6T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408131
  ensembl transcript: ENST00000438756
  gene symbol: TAC3
  hgvsc: ENST00000438756.1:c.-5-6T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl transcript: ENST00000496757
  gene symbol: TAC3
  hgvsc: ENST00000496757.1:n.144-6T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000350236
  ensembl transcript: ENST00000357616
  gene symbol: TAC3
  hgvsc: ENST00000357616.3:c.-5-6T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000404056
  ensembl transcript: ENST00000458521
  gene symbol: TAC3
  hgvsc: ENST00000458521.2:c.-5-6T>G
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27061
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.-5-6T>G
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

12-57409607-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57409607
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57409607
    reference: chr 12
allele count: 1
allele frequency: 8.37436773523599e-6
allele num: 119412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000350236
  ensembl transcript: ENST00000357616
  gene symbol: TAC3
  hgvsc: ENST00000357616.3:c.-5-21C>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-5-21C>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408208
  ensembl transcript: ENST00000441881
  gene symbol: TAC3
  hgvsc: ENST00000441881.1:c.-5-21C>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000300108
  ensembl transcript: ENST00000300108
  gene symbol: TAC3
  hgvsc: ENST00000300108.3:c.-5-21C>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000404056
  ensembl transcript: ENST00000458521
  gene symbol: TAC3
  hgvsc: ENST00000458521.2:c.-5-21C>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000416292
  ensembl transcript: ENST00000423597
  gene symbol: TAC3
  hgvsc: ENST00000423597.1:c.-5-21C>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000368721
  ensembl transcript: ENST00000379411
  gene symbol: TAC3
  hgvsc: ENST00000379411.2:c.-5-21C>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000377445
  ensembl transcript: ENST00000393867
  gene symbol: TAC3
  hgvsc: ENST00000393867.1:c.-5-21C>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl transcript: ENST00000496757
  gene symbol: TAC3
  hgvsc: ENST00000496757.1:n.144-21C>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408131
  ensembl transcript: ENST00000438756
  gene symbol: TAC3
  hgvsc: ENST00000438756.1:c.-5-21C>A
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

12-57409625-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57409625
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57409625
    reference: chr 12
allele count: 1
allele frequency: 8.495743632440147e-6
allele num: 117706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408131
  ensembl transcript: ENST00000438756
  gene symbol: TAC3
  hgvsc: ENST00000438756.1:c.-5-39T>C
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000416292
  ensembl transcript: ENST00000423597
  gene symbol: TAC3
  hgvsc: ENST00000423597.1:c.-5-39T>C
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl transcript: ENST00000496757
  gene symbol: TAC3
  hgvsc: ENST00000496757.1:n.144-39T>C
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000377445
  ensembl transcript: ENST00000393867
  gene symbol: TAC3
  hgvsc: ENST00000393867.1:c.-5-39T>C
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408208
  ensembl transcript: ENST00000441881
  gene symbol: TAC3
  hgvsc: ENST00000441881.1:c.-5-39T>C
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000368721
  ensembl transcript: ENST00000379411
  gene symbol: TAC3
  hgvsc: ENST00000379411.2:c.-5-39T>C
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000350236
  ensembl transcript: ENST00000357616
  gene symbol: TAC3
  hgvsc: ENST00000357616.3:c.-5-39T>C
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000404056
  ensembl transcript: ENST00000458521
  gene symbol: TAC3
  hgvsc: ENST00000458521.2:c.-5-39T>C
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-5-39T>C
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000300108
  ensembl transcript: ENST00000300108
  gene symbol: TAC3
  hgvsc: ENST00000300108.3:c.-5-39T>C
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13457
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-57409627-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57409627
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57409627
    reference: chr 12
allele count: 1
allele frequency: 8.529512111907199e-6
allele num: 117240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408131
  ensembl transcript: ENST00000438756
  gene symbol: TAC3
  hgvsc: ENST00000438756.1:c.-5-41C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000350236
  ensembl transcript: ENST00000357616
  gene symbol: TAC3
  hgvsc: ENST00000357616.3:c.-5-41C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000368721
  ensembl transcript: ENST00000379411
  gene symbol: TAC3
  hgvsc: ENST00000379411.2:c.-5-41C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408208
  ensembl transcript: ENST00000441881
  gene symbol: TAC3
  hgvsc: ENST00000441881.1:c.-5-41C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000377445
  ensembl transcript: ENST00000393867
  gene symbol: TAC3
  hgvsc: ENST00000393867.1:c.-5-41C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-5-41C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000404056
  ensembl transcript: ENST00000458521
  gene symbol: TAC3
  hgvsc: ENST00000458521.2:c.-5-41C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000416292
  ensembl transcript: ENST00000423597
  gene symbol: TAC3
  hgvsc: ENST00000423597.1:c.-5-41C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl transcript: ENST00000496757
  gene symbol: TAC3
  hgvsc: ENST00000496757.1:n.144-41C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000300108
  ensembl transcript: ENST00000300108
  gene symbol: TAC3
  hgvsc: ENST00000300108.3:c.-5-41C>T
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14268
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6032
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/12-57409632-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57409632
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57409632
    reference: chr 12
allele count: 1
allele frequency: 8.62083829031535e-6
allele num: 115998
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408131
  ensembl transcript: ENST00000438756
  gene symbol: TAC3
  hgvsc: ENST00000438756.1:c.-5-46T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408208
  ensembl transcript: ENST00000441881
  gene symbol: TAC3
  hgvsc: ENST00000441881.1:c.-5-46T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-5-46T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000377445
  ensembl transcript: ENST00000393867
  gene symbol: TAC3
  hgvsc: ENST00000393867.1:c.-5-46T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl transcript: ENST00000496757
  gene symbol: TAC3
  hgvsc: ENST00000496757.1:n.144-46T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000300108
  ensembl transcript: ENST00000300108
  gene symbol: TAC3
  hgvsc: ENST00000300108.3:c.-5-46T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000350236
  ensembl transcript: ENST00000357616
  gene symbol: TAC3
  hgvsc: ENST00000357616.3:c.-5-46T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000368721
  ensembl transcript: ENST00000379411
  gene symbol: TAC3
  hgvsc: ENST00000379411.2:c.-5-46T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000404056
  ensembl transcript: ENST00000458521
  gene symbol: TAC3
  hgvsc: ENST00000458521.2:c.-5-46T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000416292
  ensembl transcript: ENST00000423597
  gene symbol: TAC3
  hgvsc: ENST00000423597.1:c.-5-46T>G
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12796
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

12-57410176-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57410176
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57410176
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 8778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-11C>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408131
  ensembl transcript: ENST00000438756
  gene symbol: TAC3
  hgvsc: ENST00000438756.1:c.-11C>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166863
  ensembl transcript: ENST00000496757
  gene symbol: TAC3
  hgvsc: ENST00000496757.1:n.138C>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000350236
  ensembl transcript: ENST00000357616
  gene symbol: TAC3
  hgvsc: ENST00000357616.3:c.-11C>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000300108
  ensembl transcript: ENST00000300108
  gene symbol: TAC3
  hgvsc: ENST00000300108.3:c.-11C>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000377445
  ensembl transcript: ENST00000393867
  gene symbol: TAC3
  hgvsc: ENST00000393867.1:c.-11C>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000368721
  ensembl transcript: ENST00000379411
  gene symbol: TAC3
  hgvsc: ENST00000379411.2:c.-11C>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000404056
  ensembl transcript: ENST00000458521
  gene symbol: TAC3
  hgvsc: ENST00000458521.2:c.-11C>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000416292
  ensembl transcript: ENST00000423597
  gene symbol: TAC3
  hgvsc: ENST00000423597.1:c.-11C>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408208
  ensembl transcript: ENST00000441881
  gene symbol: TAC3
  hgvsc: ENST00000441881.1:c.-11C>G
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

12-57410190-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57410190
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57410190
    reference: chr 12
allele count: 2
allele frequency: 1.96811651249754e-4
allele num: 10162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000300108
  ensembl transcript: ENST00000300108
  gene symbol: TAC3
  hgvsc: ENST00000300108.3:c.-25G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000416292
  ensembl transcript: ENST00000423597
  gene symbol: TAC3
  hgvsc: ENST00000423597.1:c.-25G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000404056
  ensembl transcript: ENST00000458521
  gene symbol: TAC3
  hgvsc: ENST00000458521.2:c.-25G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000350236
  ensembl transcript: ENST00000357616
  gene symbol: TAC3
  hgvsc: ENST00000357616.3:c.-25G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000377445
  ensembl transcript: ENST00000393867
  gene symbol: TAC3
  hgvsc: ENST00000393867.1:c.-25G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408131
  ensembl transcript: ENST00000438756
  gene symbol: TAC3
  hgvsc: ENST00000438756.1:c.-25G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-25G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408208
  ensembl transcript: ENST00000441881
  gene symbol: TAC3
  hgvsc: ENST00000441881.1:c.-25G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166863
  ensembl transcript: ENST00000496757
  gene symbol: TAC3
  hgvsc: ENST00000496757.1:n.124G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000368721
  ensembl transcript: ENST00000379411
  gene symbol: TAC3
  hgvsc: ENST00000379411.2:c.-25G>A
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-57410191-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57410191
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57410191
    reference: chr 12
allele count: 1151
allele frequency: 1.065543417885577e-1
allele num: 10802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166863
  ensembl transcript: ENST00000496757
  gene symbol: TAC3
  hgvsc: ENST00000496757.1:n.123C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000368721
  ensembl transcript: ENST00000379411
  gene symbol: TAC3
  hgvsc: ENST00000379411.2:c.-26C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000416292
  ensembl transcript: ENST00000423597
  gene symbol: TAC3
  hgvsc: ENST00000423597.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000300108
  ensembl transcript: ENST00000300108
  gene symbol: TAC3
  hgvsc: ENST00000300108.3:c.-26C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000377445
  ensembl transcript: ENST00000393867
  gene symbol: TAC3
  hgvsc: ENST00000393867.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408131
  ensembl transcript: ENST00000438756
  gene symbol: TAC3
  hgvsc: ENST00000438756.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408208
  ensembl transcript: ENST00000441881
  gene symbol: TAC3
  hgvsc: ENST00000441881.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000404056
  ensembl transcript: ENST00000458521
  gene symbol: TAC3
  hgvsc: ENST00000458521.2:c.-26C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000350236
  ensembl transcript: ENST00000357616
  gene symbol: TAC3
  hgvsc: ENST00000357616.3:c.-26C>T
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 2.75e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.5e0
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 2.5e0
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 3.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 2.25e1
  variant carriers: 278
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 2.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 19
num of homozygotes: 53
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-57410216-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57410216
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57410216
    reference: chr 12
allele count: 1
allele frequency: 8.319467554076539e-5
allele num: 12020
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000404056
  ensembl transcript: ENST00000458521
  gene symbol: TAC3
  hgvsc: ENST00000458521.2:c.-51T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000377445
  ensembl transcript: ENST00000393867
  gene symbol: TAC3
  hgvsc: ENST00000393867.1:c.-51T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408208
  ensembl transcript: ENST00000441881
  gene symbol: TAC3
  hgvsc: ENST00000441881.1:c.-51T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000416292
  ensembl transcript: ENST00000423597
  gene symbol: TAC3
  hgvsc: ENST00000423597.1:c.-51T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166863
  ensembl transcript: ENST00000496757
  gene symbol: TAC3
  hgvsc: ENST00000496757.1:n.98T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000368721
  ensembl transcript: ENST00000379411
  gene symbol: TAC3
  hgvsc: ENST00000379411.2:c.-51T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408131
  ensembl transcript: ENST00000438756
  gene symbol: TAC3
  hgvsc: ENST00000438756.1:c.-51T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-51T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000300108
  ensembl transcript: ENST00000300108
  gene symbol: TAC3
  hgvsc: ENST00000300108.3:c.-51T>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000350236
  ensembl transcript: ENST00000357616
  gene symbol: TAC3
  hgvsc: ENST00000357616.3:c.-51T>G
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

12-57410227-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57410227
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57410227
    reference: chr 12
allele count: 1
allele frequency: 8.199409642505739e-5
allele num: 12196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408208
  ensembl transcript: ENST00000441881
  gene symbol: TAC3
  hgvsc: ENST00000441881.1:c.-62A>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-62A>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000404056
  ensembl transcript: ENST00000458521
  gene symbol: TAC3
  hgvsc: ENST00000458521.2:c.-62A>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000300108
  ensembl transcript: ENST00000300108
  gene symbol: TAC3
  hgvsc: ENST00000300108.3:c.-62A>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000350236
  ensembl transcript: ENST00000357616
  gene symbol: TAC3
  hgvsc: ENST00000357616.3:c.-62A>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000368721
  ensembl transcript: ENST00000379411
  gene symbol: TAC3
  hgvsc: ENST00000379411.2:c.-62A>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000377445
  ensembl transcript: ENST00000393867
  gene symbol: TAC3
  hgvsc: ENST00000393867.1:c.-62A>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408131
  ensembl transcript: ENST00000438756
  gene symbol: TAC3
  hgvsc: ENST00000438756.1:c.-62A>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166863
  ensembl transcript: ENST00000496757
  gene symbol: TAC3
  hgvsc: ENST00000496757.1:n.87A>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000416292
  ensembl transcript: ENST00000423597
  gene symbol: TAC3
  hgvsc: ENST00000423597.1:c.-62A>G
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

12-57410233-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57410233
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57410233
    reference: chr 12
allele count: 19
allele frequency: 1.552287581699346e-3
allele num: 12240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000416292
  ensembl transcript: ENST00000423597
  gene symbol: TAC3
  hgvsc: ENST00000423597.1:c.-68G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408131
  ensembl transcript: ENST00000438756
  gene symbol: TAC3
  hgvsc: ENST00000438756.1:c.-68G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408208
  ensembl transcript: ENST00000441881
  gene symbol: TAC3
  hgvsc: ENST00000441881.1:c.-68G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000350236
  ensembl transcript: ENST00000357616
  gene symbol: TAC3
  hgvsc: ENST00000357616.3:c.-68G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000404056
  ensembl transcript: ENST00000458521
  gene symbol: TAC3
  hgvsc: ENST00000458521.2:c.-68G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166863
  ensembl transcript: ENST00000496757
  gene symbol: TAC3
  hgvsc: ENST00000496757.1:n.81G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000300108
  ensembl transcript: ENST00000300108
  gene symbol: TAC3
  hgvsc: ENST00000300108.3:c.-68G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000368721
  ensembl transcript: ENST00000379411
  gene symbol: TAC3
  hgvsc: ENST00000379411.2:c.-68G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-68G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000377445
  ensembl transcript: ENST00000393867
  gene symbol: TAC3
  hgvsc: ENST00000393867.1:c.-68G>A
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

12-57410234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57410234
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57410234
    reference: chr 12
allele count: 2
allele frequency: 1.63265306122449e-4
allele num: 12250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000350236
  ensembl transcript: ENST00000357616
  gene symbol: TAC3
  hgvsc: ENST00000357616.3:c.-69C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000300108
  ensembl transcript: ENST00000300108
  gene symbol: TAC3
  hgvsc: ENST00000300108.3:c.-69C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-69C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408131
  ensembl transcript: ENST00000438756
  gene symbol: TAC3
  hgvsc: ENST00000438756.1:c.-69C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000368721
  ensembl transcript: ENST00000379411
  gene symbol: TAC3
  hgvsc: ENST00000379411.2:c.-69C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000404056
  ensembl transcript: ENST00000458521
  gene symbol: TAC3
  hgvsc: ENST00000458521.2:c.-69C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408208
  ensembl transcript: ENST00000441881
  gene symbol: TAC3
  hgvsc: ENST00000441881.1:c.-69C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000416292
  ensembl transcript: ENST00000423597
  gene symbol: TAC3
  hgvsc: ENST00000423597.1:c.-69C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000377445
  ensembl transcript: ENST00000393867
  gene symbol: TAC3
  hgvsc: ENST00000393867.1:c.-69C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166863
  ensembl transcript: ENST00000496757
  gene symbol: TAC3
  hgvsc: ENST00000496757.1:n.80C>T
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

12-57410265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57410265
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57410265
    reference: chr 12
allele count: 2
allele frequency: 1.622849724115547e-4
allele num: 12324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166863
  ensembl transcript: ENST00000496757
  gene symbol: TAC3
  hgvsc: ENST00000496757.1:n.49G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-100G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000377445
  ensembl transcript: ENST00000393867
  gene symbol: TAC3
  hgvsc: ENST00000393867.1:c.-100G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408131
  ensembl transcript: ENST00000438756
  gene symbol: TAC3
  hgvsc: ENST00000438756.1:c.-100G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000408208
  ensembl transcript: ENST00000441881
  gene symbol: TAC3
  hgvsc: ENST00000441881.1:c.-100G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000300108
  ensembl transcript: ENST00000300108
  gene symbol: TAC3
  hgvsc: ENST00000300108.3:c.-100G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000368721
  ensembl transcript: ENST00000379411
  gene symbol: TAC3
  hgvsc: ENST00000379411.2:c.-100G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000416292
  ensembl transcript: ENST00000423597
  gene symbol: TAC3
  hgvsc: ENST00000423597.1:c.-100G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000350236
  ensembl transcript: ENST00000357616
  gene symbol: TAC3
  hgvsc: ENST00000357616.3:c.-100G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000404056
  ensembl transcript: ENST00000458521
  gene symbol: TAC3
  hgvsc: ENST00000458521.2:c.-100G>A
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

12-57410384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57410384
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57410384
    reference: chr 12
allele count: 7
allele frequency: 5.989048596851471e-4
allele num: 11688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-107-112C>T
  variant of: http://identifiers.org/hgnc/11521
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.25e1
  variant carriers: 1
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: 6
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8578
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 168
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 7
  allele frequency: 9.291213166976374e-4
  allele num: 7534
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-57422491-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422491
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422491
    reference: chr 12
allele count: 2
allele frequency: 1.668084538524412e-5
allele num: 119898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*625A>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.*48A>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.*48A>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-108+63A>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.*48A>T
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

12-57422495-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422495
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422495
    reference: chr 12
allele count: 1
allele frequency: 8.339448929214757e-6
allele num: 119912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.*44C>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*621C>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.*44C>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.*44C>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-108+59C>G
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

12-57422496-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422496
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422496
    reference: chr 12
allele count: 1
allele frequency: 8.339309838717748e-6
allele num: 119914
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.*43C>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*620C>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.*43C>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.*43C>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-108+58C>G
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

12-57422504-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422504
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422504
    reference: chr 12
allele count: 3
allele frequency: 2.499166944351883e-5
allele num: 120040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.*35C>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*612C>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.*35C>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-108+50C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.*35C>T
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9317
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

12-57422517-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422517
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422517
    reference: chr 12
allele count: 3
allele frequency: 2.489998506000897e-5
allele num: 120482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.*22T>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.*22T>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-108+37T>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*599T>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.*22T>A
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-57422520-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422520
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422520
    reference: chr 12
allele count: 93
allele frequency: 7.713361532719582e-4
allele num: 120570
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*596A>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-108+34A>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.*19A>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.*19A>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.*19A>G
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28378
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12304
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 10307
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

12-57422524-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422524
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422524
    reference: chr 12
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*592G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.*15G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-108+30G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.*15G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.*15G>A
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-57422531-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422531
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422531
    reference: chr 12
allele count: 1
allele frequency: 8.270204108637402e-6
allele num: 120916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*585G>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.*8G>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.*8G>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.*8G>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-108+23G>T
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4163
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

12-57422543-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422543
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422543
    reference: chr 12
allele count: 3
allele frequency: 2.475084152861197e-5
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3128A>T
  hgvsp: ENSP00000300119.3:p.Gln1043Leu
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3128A>T
  hgvsp: ENSP00000393392.2:p.Gln1043Leu
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-108+11A>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2642A>T
  hgvsp: ENSP00000440514.1:p.Gln881Leu
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*573A>T
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4166
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Gln1043Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

12-57422543-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422543
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422543
    reference: chr 12
allele count: 27
allele frequency: 2.227575737575078e-4
allele num: 121208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2642A>G
  hgvsp: ENSP00000440514.1:p.Gln881Arg
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3128A>G
  hgvsp: ENSP00000300119.3:p.Gln1043Arg
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3128A>G
  hgvsp: ENSP00000393392.2:p.Gln1043Arg
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-108+11A>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*573A>G
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12464
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4166
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln1043Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

12-57422547-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422547
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422547
    reference: chr 12
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3124G>A
  hgvsp: ENSP00000300119.3:p.Val1042Met
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2638G>A
  hgvsp: ENSP00000440514.1:p.Val880Met
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*569G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3124G>A
  hgvsp: ENSP00000393392.2:p.Val1042Met
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-108+7G>A
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val1042Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-57422557-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422557
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422557
    reference: chr 12
allele count: 4
allele frequency: 3.297011259293451e-5
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3114G>A
  hgvsp: ENST00000300119.3:c.3114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-111G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3114G>A
  hgvsp: ENST00000442789.2:c.3114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*559G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2628G>A
  hgvsp: ENST00000544473.1:c.2628G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu1038Leu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-57422559-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422559
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422559
    reference: chr 12
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*557T>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3112T>A
  hgvsp: ENSP00000300119.3:p.Leu1038Met
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3112T>A
  hgvsp: ENSP00000393392.2:p.Leu1038Met
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-113T>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2626T>A
  hgvsp: ENSP00000440514.1:p.Leu876Met
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu1038Met
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

12-57422568-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422568
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422567
    reference: chr 12
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-123delG
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*547delG
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2616delG
  hgvsp: ENSP00000440514.1:p.Ser873ValfsTer6
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3102delG
  hgvsp: ENSP00000393392.2:p.Ser1035ValfsTer6
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3102delG
  hgvsp: ENSP00000300119.3:p.Ser1035ValfsTer6
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8980
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser1035ValfsTer6
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: TC
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-57422570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422570
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422570
    reference: chr 12
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*546G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2615G>A
  hgvsp: ENSP00000440514.1:p.Gly872Glu
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3101G>A
  hgvsp: ENSP00000393392.2:p.Gly1034Glu
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-124G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3101G>A
  hgvsp: ENSP00000300119.3:p.Gly1034Glu
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4131
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly1034Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

12-57422572-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422572
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422573
    reference: chr 12
allele count: 2
allele frequency: 1.65016501650165e-5
allele num: 121200
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3098dupA
  hgvsp: ENSP00000300119.3:p.Ser1035GlufsTer24
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2612dupA
  hgvsp: ENSP00000440514.1:p.Ser873GlufsTer24
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-127dupA
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3098dupA
  hgvsp: ENSP00000393392.2:p.Ser1035GlufsTer24
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*543dupA
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39638
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1035GlufsTer24
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

12-57422572-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422572
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422571
    reference: chr 12
allele count: 75
allele frequency: 6.188118811881188e-4
allele num: 121200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-127delA
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3098delA
  hgvsp: ENSP00000393392.2:p.Lys1033ArgfsTer8
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3098delA
  hgvsp: ENSP00000300119.3:p.Lys1033ArgfsTer8
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*543delA
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2612delA
  hgvsp: ENSP00000440514.1:p.Lys871ArgfsTer8
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29077
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 9.75e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 8933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 39638
  bin: 6.25e1
  variant carriers: 2
hgvs: p.Lys1033ArgfsTer8
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CT
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-57422575-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422575
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422575
    reference: chr 12
allele count: 25
allele frequency: 2.059511648597885e-4
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2610A>G
  hgvsp: ENST00000544473.1:c.2610A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-129A>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3096A>G
  hgvsp: ENST00000442789.2:c.3096A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3096A>G
  hgvsp: ENST00000300119.3:c.3096A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*541A>G
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40051
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys1032Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

12-57422576-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422576
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422576
    reference: chr 12
allele count: 173
allele frequency: 1.425182060829736e-3
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-130A>C
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*540A>C
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3095A>C
  hgvsp: ENSP00000300119.3:p.Lys1032Thr
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2609A>C
  hgvsp: ENSP00000440514.1:p.Lys870Thr
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3095A>C
  hgvsp: ENSP00000393392.2:p.Lys1032Thr
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.75e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12568
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3883
  bin: 9.75e1
  variant carriers: 170
hgvs: p.Lys1032Thr
num of homozygotes: 3
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

12-57422580-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422580
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422580
    reference: chr 12
allele count: 13
allele frequency: 1.070928412554576e-4
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*536A>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2605A>G
  hgvsp: ENSP00000440514.1:p.Lys869Glu
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3091A>G
  hgvsp: ENSP00000393392.2:p.Lys1031Glu
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-134A>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3091A>G
  hgvsp: ENSP00000300119.3:p.Lys1031Glu
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 29515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9055
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys1031Glu
num of homozygotes: 1
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-57422585-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422585
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422585
    reference: chr 12
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2600G>A
  hgvsp: ENSP00000440514.1:p.Arg867His
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3086G>A
  hgvsp: ENSP00000300119.3:p.Arg1029His
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3086G>A
  hgvsp: ENSP00000393392.2:p.Arg1029His
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*531G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-139G>A
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg1029His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

12-57422586-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422586
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422586
    reference: chr 12
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-140C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3085C>T
  hgvsp: ENSP00000393392.2:p.Arg1029Cys
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*530C>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2599C>T
  hgvsp: ENSP00000440514.1:p.Arg867Cys
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3085C>T
  hgvsp: ENSP00000300119.3:p.Arg1029Cys
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40175
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1029Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-57422592-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422592
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422592
    reference: chr 12
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3079A>G
  hgvsp: ENSP00000393392.2:p.Lys1027Glu
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*524A>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-146A>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3079A>G
  hgvsp: ENSP00000300119.3:p.Lys1027Glu
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2593A>G
  hgvsp: ENSP00000440514.1:p.Lys865Glu
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40177
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys1027Glu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-57422595-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422595
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422595
    reference: chr 12
allele count: 7
allele frequency: 5.766062602965403e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3076A>G
  hgvsp: ENSP00000300119.3:p.Ser1026Gly
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3076A>G
  hgvsp: ENSP00000393392.2:p.Ser1026Gly
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*521A>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-149A>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2590A>G
  hgvsp: ENSP00000440514.1:p.Ser864Gly
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser1026Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-57422599-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422599
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422599
    reference: chr 12
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*517C>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3072C>A
  hgvsp: ENSP00000393392.2:p.Asp1024Glu
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2586C>A
  hgvsp: ENSP00000440514.1:p.Asp862Glu
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3072C>A
  hgvsp: ENSP00000300119.3:p.Asp1024Glu
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-153C>A
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp1024Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

12-57422609-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422609
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422609
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2576C>G
  hgvsp: ENSP00000440514.1:p.Ala859Gly
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*507C>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-163C>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3062C>G
  hgvsp: ENSP00000300119.3:p.Ala1021Gly
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3062C>G
  hgvsp: ENSP00000393392.2:p.Ala1021Gly
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12596
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1021Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-57422621-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422621
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422621
    reference: chr 12
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3050T>G
  hgvsp: ENSP00000393392.2:p.Val1017Gly
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2564T>G
  hgvsp: ENSP00000440514.1:p.Val855Gly
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*495T>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3050T>G
  hgvsp: ENSP00000300119.3:p.Val1017Gly
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-175T>G
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val1017Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-57422622-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422622
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422622
    reference: chr 12
allele count: 15
allele frequency: 1.235930985613763e-4
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3049G>A
  hgvsp: ENSP00000300119.3:p.Val1017Ile
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*494G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3049G>A
  hgvsp: ENSP00000393392.2:p.Val1017Ile
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2563G>A
  hgvsp: ENSP00000440514.1:p.Val855Ile
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-176G>A
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val1017Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

12-57422623-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422623
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422623
    reference: chr 12
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*493C>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2562C>T
  hgvsp: ENST00000544473.1:c.2562C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-177C>T
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3048C>T
  hgvsp: ENST00000300119.3:c.3048C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3048C>T
  hgvsp: ENST00000442789.2:c.3048C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
  all individuals: 2388
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genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9038
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val1016Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-57422626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422626
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422626
    reference: chr 12
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-180G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2559G>A
  hgvsp: ENST00000544473.1:c.2559G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3045G>A
  hgvsp: ENST00000442789.2:c.3045G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3045G>A
  hgvsp: ENST00000300119.3:c.3045G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*490G>A
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
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genotype quality: GenotypeQuality
  all individuals: 9032
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 40164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys1015Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

12-57422627-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422627
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422627
    reference: chr 12
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3044A>G
  hgvsp: ENSP00000300119.3:p.Lys1015Arg
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2558A>G
  hgvsp: ENSP00000440514.1:p.Lys853Arg
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-181A>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*489A>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3044A>G
  hgvsp: ENSP00000393392.2:p.Lys1015Arg
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9032
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys1015Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

12-57422628-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422628
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422628
    reference: chr 12
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-182A>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3043A>G
  hgvsp: ENSP00000300119.3:p.Lys1015Glu
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2557A>G
  hgvsp: ENSP00000440514.1:p.Lys853Glu
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3043A>G
  hgvsp: ENSP00000393392.2:p.Lys1015Glu
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*488A>G
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys1015Glu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-57422632-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422632
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422632
    reference: chr 12
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*484T>C
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2553T>C
  hgvsp: ENST00000544473.1:c.2553T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-186T>C
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3039T>C
  hgvsp: ENST00000300119.3:c.3039T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3039T>C
  hgvsp: ENST00000442789.2:c.3039T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10672
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala1013Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-57422637-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422637
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422637
    reference: chr 12
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3034G>A
  hgvsp: ENSP00000300119.3:p.Val1012Met
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3034G>A
  hgvsp: ENSP00000393392.2:p.Val1012Met
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2548G>A
  hgvsp: ENSP00000440514.1:p.Val850Met
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-191G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*479G>A
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40178
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val1012Met
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

12-57422639-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422639
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422639
    reference: chr 12
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3032G>A
  hgvsp: ENSP00000393392.2:p.Ser1011Asn
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-193G>A
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*477G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2546G>A
  hgvsp: ENSP00000440514.1:p.Ser849Asn
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3032G>A
  hgvsp: ENSP00000300119.3:p.Ser1011Asn
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9010
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser1011Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-57422641-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422641
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422641
    reference: chr 12
allele count: 2
allele frequency: 1.649294102124291e-5
allele num: 121264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2544C>G
  hgvsp: ENSP00000440514.1:p.Asn848Lys
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3030C>G
  hgvsp: ENSP00000300119.3:p.Asn1010Lys
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-195C>G
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3030C>G
  hgvsp: ENSP00000393392.2:p.Asn1010Lys
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*475C>G
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12528
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn1010Lys
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

12-57422643-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422643
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422640
    reference: chr 12
allele count: 16
allele frequency: 1.319718240155727e-4
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-200_-198delGAG
  variant of: http://identifiers.org/hgnc/11521
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3025_3027delGAG
  hgvsp: ENSP00000300119.3:p.Glu1009del
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2539_2541delGAG
  hgvsp: ENSP00000440514.1:p.Glu847del
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*470_*472delGAG
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3025_3027delGAG
  hgvsp: ENSP00000393392.2:p.Glu1009del
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu1009del
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: TCTC
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

12-57422645-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422645
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422645
    reference: chr 12
allele count: 692
allele frequency: 5.711078832695101e-3
allele num: 121168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2540A>C
  hgvsp: ENSP00000440514.1:p.Glu847Ala
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3026A>C
  hgvsp: ENSP00000300119.3:p.Glu1009Ala
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*471A>C
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3026A>C
  hgvsp: ENSP00000393392.2:p.Glu1009Ala
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166863
  ensembl protein: ENSP00000402995
  ensembl transcript: ENST00000415231
  gene symbol: TAC3
  hgvsc: ENST00000415231.1:c.-199A>C
  variant of: http://identifiers.org/hgnc/11521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10667
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12482
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 4.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 29477
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 9.75e1
  variant carriers: 665
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu1009Ala
num of homozygotes: 27
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ

12-57422680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422680
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422680
    reference: chr 12
allele count: 1
allele frequency: 8.40180806909647e-6
allele num: 119022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3006-15C>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*451-15C>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3006-15C>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2520-15C>T
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26219
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35745
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-57422691-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422691
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422691
    reference: chr 12
allele count: 1
allele frequency: 8.469838903664053e-6
allele num: 118066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3006-26G>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3006-26G>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*451-26G>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2520-26G>T
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20849
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-57422694-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422694
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422694
    reference: chr 12
allele count: 1
allele frequency: 8.48219587086705e-6
allele num: 117894
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3006-29C>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3006-29C>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2520-29C>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*451-29C>T
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19066
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 611
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6620
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-57422703-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422703
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422703
    reference: chr 12
allele count: 6
allele frequency: 5.151452709664125e-5
allele num: 116472
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3006-38G>C
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2520-38G>C
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*451-38G>C
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3006-38G>C
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8839
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10223
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4059
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

12-57422704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422704
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422704
    reference: chr 12
allele count: 3
allele frequency: 2.582866982350409e-5
allele num: 116150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3006-39G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*451-39G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2520-39G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3006-39G>A
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11999
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-57422709-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422709
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422709
    reference: chr 12
allele count: 3
allele frequency: 2.615746795710175e-5
allele num: 114690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3006-44G>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*451-44G>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3006-44G>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2520-44G>T
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15917
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12449
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-57422717-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422717
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422717
    reference: chr 12
allele count: 7
allele frequency: 6.187243671333617e-5
allele num: 113136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*451-52G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3006-52G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2520-52G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3006-52G>A
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10082
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8811
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15428
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13836
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-57422875-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422875
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422875
    reference: chr 12
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3005+41A>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3005+41A>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*450+41A>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2519+41A>G
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-57422879-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422879
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422879
    reference: chr 12
allele count: 5
allele frequency: 4.118887570844866e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*450+37G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3005+37G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2519+37G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3005+37G>A
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23366
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-57422880-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422880
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422880
    reference: chr 12
allele count: 4
allele frequency: 3.295218637756615e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3005+36G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2519+36G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*450+36G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3005+36G>A
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23367
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56660
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

12-57422880-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422880
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422879
    reference: chr 12
allele count: 3
allele frequency: 2.471413978317461e-5
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2519+35delC
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3005+35delC
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*450+35delC
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3005+35delC
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23367
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: CG
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

12-57422881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422881
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422881
    reference: chr 12
allele count: 68
allele frequency: 5.601963982666864e-4
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2519+35C>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3005+35C>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*450+35C>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3005+35C>T
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23375
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56659
  bin: 9.75e1
  variant carriers: 66
num of homozygotes: 2
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

12-57422881-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422881
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422881
    reference: chr 12
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3005+35C>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*450+35C>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3005+35C>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2519+35C>A
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23375
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56659
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-57422883-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422883
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422883
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*450+33T>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3005+33T>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2519+33T>G
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3005+33T>G
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56653
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

12-57422887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422887
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422887
    reference: chr 12
allele count: 4
allele frequency: 3.295164346321773e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3005+29G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3005+29G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*450+29G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2519+29G>A
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23371
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

12-57422888-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422888
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422888
    reference: chr 12
allele count: 6
allele frequency: 4.942909396470763e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2519+28C>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3005+28C>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3005+28C>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*450+28C>T
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23371
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56654
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

12-57422892-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422892
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422891
    reference: chr 12
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3005+23delA
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3005+23delA
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*450+23delA
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2519+23delA
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23371
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56655
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: CT
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-57422900-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422900
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422900
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2519+16G>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*450+16G>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3005+16G>T
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3005+16G>T
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56655
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-57422904-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422904
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422904
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*450+12A>C
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3005+12A>C
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3005+12A>C
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2519+12A>C
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

12-57422905-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57422905
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57422905
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000451033
  ensembl transcript: ENST00000554234
  gene symbol: MYO1A
  hgvsc: ENST00000554234.1:c.*450+11G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000300119
  ensembl transcript: ENST00000300119
  gene symbol: MYO1A
  hgvsc: ENST00000300119.3:c.3005+11G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000440514
  ensembl transcript: ENST00000544473
  gene symbol: MYO1A
  hgvsc: ENST00000544473.1:c.2519+11G>A
  variant of: http://identifiers.org/hgnc/7595
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166866
  ensembl protein: ENSP00000393392
  ensembl transcript: ENST00000442789
  gene symbol: MYO1A
  hgvsc: ENST00000442789.2:c.3005+11G>A
  variant of: http://identifiers.org/hgnc/7595
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23370
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56655
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C

GenotypeQuality
all individuals: 103
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2074
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36775
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7226
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9212
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 618
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2207
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.899e-1

DP
type: SiteQuality
SIO_000300: 2.161067e6

FS
type: SiteQuality
SIO_000300: 8.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.101e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

QD
type: SiteQuality
SIO_000300: 1.162e1

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1998
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8939
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 482
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36128
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7215
bin: 9.75e1
variant carriers: 7

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.056061794701587e-4
allele num: 66284
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.131e0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.711e0

DP
type: SiteQuality
SIO_000300: 2.144668e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 584
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52587890625e-5
allele num: 65536
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.918e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-1

ReadPosRankSum
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SIO_000300: 1.77e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.559e0

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.587e0

DP
type: SiteQuality
SIO_000300: 2.059318e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5500031000062e-5
allele num: 64516
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.832725e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.577e0

MQRankSum
type: SiteQuality
SIO_000300: 9.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 4.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64222
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.16827041697508e-5
allele num: 16212
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.682e0

QD
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MQRankSum
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SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 9.798999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-2

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.711e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-2

DP
type: SiteQuality
SIO_000300: 1.812504e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.064539521392314e-5
allele num: 11032
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8008
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.31e0

QD
type: SiteQuality
SIO_000300: 7.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.126e0

DP
type: SiteQuality
SIO_000300: 1.780342e6

VQSLOD
type: SiteQuality
SIO_000300: -7.003e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
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GenotypeQuality
all individuals: 403
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 102
bin: 1.75e1
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GenotypeQuality
all individuals: 137
bin: 9.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 2.199e1

VQSLOD
type: SiteQuality
SIO_000300: -1.116e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.06e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.2406e5

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.020408163265306e-2
allele num: 196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2980
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.62e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-2

FS
type: SiteQuality
SIO_000300: 2.476e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 1.41724e5

QD
type: SiteQuality
SIO_000300: 1.139e1

GenotypeQuality
all individuals: 150
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 93
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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variant carriers: 17

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1043

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 47
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GenotypeQuality
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bin: 9.25e1
variant carriers: 7

South Asian
type: Population
allele count: 736
allele frequency: 1.119561910556739e-1
allele num: 6574
num of homozygotes: 38

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.5e-1
allele num: 4
num of homozygotes: 0

Other
type: Population
allele count: 18
allele frequency: 1.551724137931035e-1
allele num: 116
num of homozygotes: 2

Latino
type: Population
allele count: 19
allele frequency: 1.01063829787234e-1
allele num: 188
num of homozygotes: 1

African
type: Population
allele count: 53
allele frequency: 9.532374100719425e-2
allele num: 556
num of homozygotes: 1

East Asian
type: Population
allele count: 35
allele frequency: 1.732673267326733e-1
allele num: 202
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 289
allele frequency: 9.139784946236559e-2
allele num: 3162
num of homozygotes: 9

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.475e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.67e0

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

DP
type: SiteQuality
SIO_000300: 1.54435e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.21e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 64
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 29
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GenotypeQuality
all individuals: 120
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GenotypeQuality
all individuals: 238
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GenotypeQuality
all individuals: 32
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

East Asian
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: 7456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.773049645390071e-3
allele num: 564
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.59572e5

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.54e-2

FS
type: SiteQuality
SIO_000300: 2.622e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.122e1

VQSLOD
type: SiteQuality
SIO_000300: -5.523e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3540
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.321702352630188e-4
allele num: 7566
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.53e-1

FS
type: SiteQuality
SIO_000300: 1.614e0

VQSLOD
type: SiteQuality
SIO_000300: -1.672e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-2

QD
type: SiteQuality
SIO_000300: 1.684e1

DP
type: SiteQuality
SIO_000300: 1.61369e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 19

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 134
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.779359430604982e-3
allele num: 562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 18
allele frequency: 2.37029233605478e-3
allele num: 7594
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 1.62438e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.29e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

QD
type: SiteQuality
SIO_000300: 1.079e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 256
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.630194634402946e-4
allele num: 7604
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

Latino
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: 3562
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.18e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 7.637e0

QD
type: SiteQuality
SIO_000300: 1.386e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

DP
type: SiteQuality
SIO_000300: 1.62307e5

VQSLOD
type: SiteQuality
SIO_000300: -1.333e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 0
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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bin: 3.25e1
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3626
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 2.625360987135731e-4
allele num: 7618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.264e1

VQSLOD
type: SiteQuality
SIO_000300: -8.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

DP
type: SiteQuality
SIO_000300: 1.62704e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.16e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3252
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.407e0

MQRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.55481e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.679999999999999e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 383
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variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 3.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66356
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15416
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

DP
type: SiteQuality
SIO_000300: 1.822386e6

FS
type: SiteQuality
SIO_000300: 3.622e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

QD
type: SiteQuality
SIO_000300: 1.381e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66350
num of homozygotes: 0

Latino
type: Population
allele count: 0
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num of homozygotes: 0

Other
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South 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
allele num: 10396
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.52e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

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

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.175e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 202
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variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15436
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.327e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.931745009658725e-4
allele num: 15530
num of homozygotes: 0

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

Latino
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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: 8652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66380
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.495e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.027e0

VQSLOD
type: SiteQuality
SIO_000300: 7.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 4.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.039e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

DP
type: SiteQuality
SIO_000300: 1.831512e6

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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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66472
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Other
type: Population
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allele frequency: 0.0e0
allele num: 902
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African
type: Population
allele count: 3
allele frequency: 2.884615384615385e-4
allele num: 10400
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15866
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

DP
type: SiteQuality
SIO_000300: 1.846572e6

FS
type: SiteQuality
SIO_000300: 4.213e0

MQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

QD
type: SiteQuality
SIO_000300: 1.285e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
all individuals: 4248
bin: 9.75e1
variant carriers: 93

GenotypeQuality
all individuals: 1446
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 30
allele frequency: 1.883475640381718e-3
allele num: 15928
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 5
allele frequency: 5.543237250554324e-3
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 54
allele frequency: 8.120789220404234e-4
allele num: 66496
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.367e1

VQSLOD
type: SiteQuality
SIO_000300: 6.26e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.83e-2

DP
type: SiteQuality
SIO_000300: 1.852033e6

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.234413965087281e-5
allele num: 16040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.934e0

DP
type: SiteQuality
SIO_000300: 1.850113e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 1.4e1

FS
type: SiteQuality
SIO_000300: 3.314e0

MQRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.04e-1

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2361
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.578e0

QD
type: SiteQuality
SIO_000300: 1.28e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.43e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

DP
type: SiteQuality
SIO_000300: 1.855412e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.14e-1

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8931
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 615
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501800720288115e-5
allele num: 66640
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.11e-1

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.85e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

DP
type: SiteQuality
SIO_000300: 1.862203e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39562
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2559
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8931
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

South Asian
type: Population
allele count: 27
allele frequency: 1.644937248690143e-3
allele num: 16414
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.85e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

DP
type: SiteQuality
SIO_000300: 1.862203e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.53e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

FS
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

GenotypeQuality
all individuals: 89
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
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variant carriers: 0

GenotypeQuality
all individuals: 4135
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1451
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8950
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.765e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 3.348e0

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.745e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.860997e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.233e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

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

GenotypeQuality
all individuals: 4136
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2564
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499505054444011e-5
allele num: 66674
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.862542e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.831e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39779
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4133
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 736
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

FS
type: SiteQuality
SIO_000300: 1.881e0

QD
type: SiteQuality
SIO_000300: 1.504e1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.862587e6

GenotypeQuality
all individuals: 4132
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 39815
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

DP
type: SiteQuality
SIO_000300: 1.862792e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

MQ
type: SiteQuality
SIO_000300: 6.021e1

QD
type: SiteQuality
SIO_000300: 1.139e1

FS
type: SiteQuality
SIO_000300: 5.164e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
all individuals: 736
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8982
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2563
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.085e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 9.53e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.862815e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.363e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.279e0

QD
type: SiteQuality
SIO_000300: 5.94e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
all individuals: 2365
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GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 602
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.852e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

DP
type: SiteQuality
SIO_000300: 1.883733e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2532
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

Latino
type: Population
allele count: 53
allele frequency: 4.581604426002766e-3
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.002191599867904e-4
allele num: 66618
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 7.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

DP
type: SiteQuality
SIO_000300: 1.883733e6

FS
type: SiteQuality
SIO_000300: 1.852e0

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.73e-1

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2557
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.746890081232577e-4
allele num: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.479e1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

DP
type: SiteQuality
SIO_000300: 1.852357e6

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40069
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2555
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 162
allele frequency: 1.557093425605536e-2
allele num: 10404
num of homozygotes: 3

Latino
type: Population
allele count: 11
allele frequency: 9.502418797512094e-4
allele num: 11576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

DP
type: SiteQuality
SIO_000300: 1.860274e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.64e-2

QD
type: SiteQuality
SIO_000300: 1.558e1

GenotypeQuality
all individuals: 2561
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.798453330136083e-4
allele num: 66724
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 1.842063e6

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.34e-1

FS
type: SiteQuality
SIO_000300: 1.804e0

QD
type: SiteQuality
SIO_000300: 1.385e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

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

GenotypeQuality
all individuals: 9056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3729
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1440
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2560
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 8.567e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

DP
type: SiteQuality
SIO_000300: 1.840989e6

QD
type: SiteQuality
SIO_000300: 1.078e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: -4.7e-3

MQ
type: SiteQuality
SIO_000300: 5.905e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

GenotypeQuality
all individuals: 3727
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2561
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9057
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

FS
type: SiteQuality
SIO_000300: 1.798e0

DP
type: SiteQuality
SIO_000300: 1.840991e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.272e1

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.602e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.34e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
all individuals: 726
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 8.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

DP
type: SiteQuality
SIO_000300: 1.840934e6

QD
type: SiteQuality
SIO_000300: 8.91e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 1.216e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.48e-1

GenotypeQuality
all individuals: 606
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40179
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.048972007432716e-4
allele num: 66732
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.841087e6

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.279e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.432e0

FS
type: SiteQuality
SIO_000300: 5.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

GenotypeQuality
all individuals: 726
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 605
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9058
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.004e0

DP
type: SiteQuality
SIO_000300: 1.840511e6

QD
type: SiteQuality
SIO_000300: 1.206e1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.85e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 1436
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40176
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9051
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

QD
type: SiteQuality
SIO_000300: 1.489e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.82e-1

DP
type: SiteQuality
SIO_000300: 1.840046e6

GenotypeQuality
all individuals: 1433
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3710
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9038
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2556
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.839113e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

QD
type: SiteQuality
SIO_000300: 1.664e1

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1431
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3710
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 2385
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40149
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

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

African
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allele count: 10
allele frequency: 9.613535858488752e-4
allele num: 10402
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 6.44e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

QD
type: SiteQuality
SIO_000300: 1.459e1

DP
type: SiteQuality
SIO_000300: 1.839116e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

FS
type: SiteQuality
SIO_000300: 1.819e0

VQSLOD
type: SiteQuality
SIO_000300: -3.125e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.659e0

MQ
type: SiteQuality
SIO_000300: 5.891e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 1.838115e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99805126667666e-5
allele num: 66710
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.837794e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.316e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.894e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

QD
type: SiteQuality
SIO_000300: 1.508e1

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.246e1

DP
type: SiteQuality
SIO_000300: 1.837471e6

MQRankSum
type: SiteQuality
SIO_000300: -9.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

FS
type: SiteQuality
SIO_000300: 2.806e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.217e1

VQSLOD
type: SiteQuality
SIO_000300: -4.478e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 7.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.156e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.75e-1

DP
type: SiteQuality
SIO_000300: 1.837323e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

GenotypeQuality
all individuals: 2380
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1430
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GenotypeQuality
all individuals: 40204
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 1.835472e6

VQSLOD
type: SiteQuality
SIO_000300: -1.71e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e0

QD
type: SiteQuality
SIO_000300: 1.313e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9017
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GenotypeQuality
all individuals: 113
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.892e1

MQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

FS
type: SiteQuality
SIO_000300: 9.801e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.144e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.105e0

DP
type: SiteQuality
SIO_000300: 1.834053e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
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allele num: 908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.833709e6

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

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

Latino
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allele frequency: 0.0e0
allele num: 11554
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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South Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001020346917952e-5
allele num: 66644
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.338e1

GenotypeQuality
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GenotypeQuality
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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
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.401392807828541e-4
allele num: 66628
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.644e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 9
allele frequency: 1.351635478929505e-4
allele num: 66586
num of homozygotes: 0

Latino
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allele frequency: 2.597402597402597e-3
allele num: 11550
num of homozygotes: 0

Other
type: Population
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allele frequency: 3.311258278145695e-3
allele num: 906
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
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African
type: Population
allele count: 649
allele frequency: 6.242785686802616e-2
allele num: 10396
num of homozygotes: 27

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
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QD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.75e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527883880825057e-5
allele num: 65450
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -4.26e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.133e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 1.685794e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.813542688910697e-5
allele num: 10190
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64894
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.566011e6

VQSLOD
type: SiteQuality
SIO_000300: 5.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.635e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.38e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.209774981853375e-4
allele num: 8266
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.529323e6

MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: 2.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 6
allele frequency: 5.947660586835844e-4
allele num: 10088
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64060
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11046
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8118
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 3.556e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.424198e6

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8064
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.875468867216804e-4
allele num: 15996
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10984
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63904
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.17e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

DP
type: SiteQuality
SIO_000300: 1.41152e6

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.395e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10804
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63054
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.8910741301059e-4
allele num: 15864
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.1303e1

MQ
type: SiteQuality
SIO_000300: 5.899e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.847e0

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

QD
type: SiteQuality
SIO_000300: 1.234e1

DP
type: SiteQuality
SIO_000300: 1.373395e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.51e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10600
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.124859392575928e-4
allele num: 62230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7768
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.360296e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

QD
type: SiteQuality
SIO_000300: 1.083e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.109e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 5.301641e6

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

South Asian
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allele num: 16512
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African
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allele count: 5
allele frequency: 4.806767929244376e-4
allele num: 10402
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele num: 8654
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11578
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African
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allele frequency: 2.884615384615385e-4
allele num: 10400
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Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.222e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

South Asian
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allele frequency: 0.0e0
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African
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Other
type: Population
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allele frequency: 0.0e0
allele num: 906
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European (Finnish)
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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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European (Non-Finnish)
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allele count: 3
allele frequency: 4.496133325340207e-5
allele num: 66724
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

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

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

Other
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European (Non-Finnish)
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African
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allele frequency: 6.152662949432801e-3
allele num: 10402
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Latino
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allele frequency: 2.591121091725686e-4
allele num: 11578
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East Asian
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South Asian
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InbreedingCoeff
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MQ
type: SiteQuality
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QD
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BaseQRankSum
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ClippingRankSum
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DP
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 906
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European (Non-Finnish)
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allele frequency: 1.498800959232614e-5
allele num: 66720
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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East Asian
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VQSLOD
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FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 3.0e-2

QD
type: SiteQuality
SIO_000300: 1.339e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

DP
type: SiteQuality
SIO_000300: 5.30247e6

GenotypeQuality
all individuals: 670
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 5.301836e6

QD
type: SiteQuality
SIO_000300: 1.524e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.5e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 8.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 4.339e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-3

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56653
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

DP
type: SiteQuality
SIO_000300: 5.302047e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.96e-1

FS
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 309
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.983e0

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 5.302208e6

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.17e1

GenotypeQuality
all individuals: 307
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49599856128046e-5
allele num: 66726
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.788e0

QD
type: SiteQuality
SIO_000300: 1.315e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.81e-1

DP
type: SiteQuality
SIO_000300: 5.302174e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

MQ
type: SiteQuality
SIO_000300: 6.105e1

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.302326e6

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.213e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.983e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56655
bin: 9.75e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.807e0

FS
type: SiteQuality
SIO_000300: 1.498e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 5.302422e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

QD
type: SiteQuality
SIO_000300: 1.229e1

VQSLOD
type: SiteQuality
SIO_000300: 9.12e-1

GenotypeQuality
all individuals: 301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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