12-111926628-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111926628
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111926628
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 29666
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2416-44A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1621-44A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1903-44A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.549-44A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2178-44A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1936-44A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2416-44A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1621-44A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1549-44A>G
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22017
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD

12-111947311-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947311
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947311
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 25194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1935+42A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1902+42A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1620+42A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1620+42A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.548+42A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2415+42A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2415+42A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2177+42A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1548+42A>G
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 31502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11585
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3910
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

12-111947313-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947313
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947313
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 25242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1620+40A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1548+40A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.548+40A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1902+40A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2415+40A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1620+40A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2415+40A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1935+40A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2177+40A>G
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11862
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-111947314-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947314
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947314
    reference: chr 12
allele count: 4
allele frequency: 1.585414189456996e-4
allele num: 25230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1935+39A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.548+39A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1548+39A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2177+39A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2415+39A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1902+39A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1620+39A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1620+39A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2415+39A>G
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12045
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7747
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/12-111947331-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947331
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947331
    reference: chr 12
allele count: 1
allele frequency: 3.863092018851889e-5
allele num: 25886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.548+22G>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1620+22G>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1620+22G>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2415+22G>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2177+22G>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2415+22G>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1902+22G>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1548+22G>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1935+22G>T
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14818
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

12-111947334-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947334
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947334
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 26102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2415+19G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2177+19G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1620+19G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2415+19G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1548+19G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1620+19G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1935+19G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1902+19G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.548+19G>C
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26096
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23823
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

12-111947355-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947355
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947355
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 28110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1618A>T
  hgvsp: ENSP00000373805.4:p.Arg540Trp
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.546A>T
  hgvsp: ENSP00000447225.2:p.Arg183Trp
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1546A>T
  hgvsp: ENSP00000439338.1:p.Arg516Trp
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1933A>T
  hgvsp: ENSP00000476504.1:p.Arg645Trp
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2413A>T
  hgvsp: ENSP00000366843.3:p.Arg805Trp
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1900A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2413A>T
  hgvsp: ENSP00000446576.1:p.Arg805Trp
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1618A>T
  hgvsp: ENSP00000445583.2:p.Arg540Trp
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2175A>T
  hgvsp: ENSP00000446512.1:p.Arg726Trp
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23831
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg805Trp
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

12-111947371-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947371
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947371
    reference: chr 12
allele count: 1
allele frequency: 3.345152873486319e-5
allele num: 29894
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2397A>G
  hgvsp: ENST00000377617.3:c.2397A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.530A>G
  hgvsp: ENST00000492467.1:c.530A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1602A>G
  hgvsp: ENST00000542287.2:c.1602A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1530A>G
  hgvsp: ENST00000535949.1:c.1530A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2397A>G
  hgvsp: ENST00000550104.1:c.2397A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2159A>G
  hgvsp: ENST00000483311.1:c.2159A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1602A>G
  hgvsp: ENST00000389153.4:c.1602A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1917A>G
  hgvsp: ENST00000608853.1:c.1917A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1884A>G
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys799Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

12-111947386-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947386
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947386
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 31892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2382T>A
  hgvsp: ENST00000550104.1:c.2382T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1902T>A
  hgvsp: ENST00000608853.1:c.1902T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1587T>A
  hgvsp: ENST00000542287.2:c.1587T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.515T>A
  hgvsp: ENST00000492467.1:c.515T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1869T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2144T>A
  hgvsp: ENST00000483311.1:c.2144T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2382T>A
  hgvsp: ENST00000377617.3:c.2382T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1587T>A
  hgvsp: ENST00000389153.4:c.1587T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1515T>A
  hgvsp: ENST00000535949.1:c.1515T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28137
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile794Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

12-111947387-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947387
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947387
    reference: chr 12
allele count: 1
allele frequency: 3.12930279133809e-5
allele num: 31956
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.514T>C
  hgvsp: ENSP00000447225.2:p.Ile172Thr
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1514T>C
  hgvsp: ENSP00000439338.1:p.Ile505Thr
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2381T>C
  hgvsp: ENSP00000446576.1:p.Ile794Thr
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1868T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1586T>C
  hgvsp: ENSP00000373805.4:p.Ile529Thr
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1901T>C
  hgvsp: ENSP00000476504.1:p.Ile634Thr
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2381T>C
  hgvsp: ENSP00000366843.3:p.Ile794Thr
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2143T>C
  hgvsp: ENSP00000446512.1:p.Ile715Thr
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1586T>C
  hgvsp: ENSP00000445583.2:p.Ile529Thr
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14948
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile794Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

12-111947399-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947399
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947399
    reference: chr 12
allele count: 1
allele frequency: 3.044696139325295e-5
allele num: 32844
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2369A>G
  hgvsp: ENSP00000366843.3:p.His790Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1574A>G
  hgvsp: ENSP00000445583.2:p.His525Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2131A>G
  hgvsp: ENSP00000446512.1:p.His711Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.502A>G
  hgvsp: ENSP00000447225.2:p.His168Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2369A>G
  hgvsp: ENSP00000446576.1:p.His790Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1574A>G
  hgvsp: ENSP00000373805.4:p.His525Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1502A>G
  hgvsp: ENSP00000439338.1:p.His501Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1856A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1889A>G
  hgvsp: ENSP00000476504.1:p.His630Arg
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27163
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His790Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-111947412-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947412
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947412
    reference: chr 12
allele count: 1
allele frequency: 3.011866755014758e-5
allele num: 33202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2118G>C
  hgvsp: ENSP00000446512.1:p.Val707Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1876G>C
  hgvsp: ENSP00000476504.1:p.Val626Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1489G>C
  hgvsp: ENSP00000439338.1:p.Val497Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2356G>C
  hgvsp: ENSP00000366843.3:p.Val786Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.489G>C
  hgvsp: ENSP00000447225.2:p.Val164Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1561G>C
  hgvsp: ENSP00000445583.2:p.Val521Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1561G>C
  hgvsp: ENSP00000373805.4:p.Val521Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2356G>C
  hgvsp: ENSP00000446576.1:p.Val786Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1843G>C
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14834
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val786Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-111947446-GAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947446
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947444
    reference: chr 12
allele count: 2
allele frequency: 6.312334301224592e-5
allele num: 31684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1550-25_1550-24delGT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1478-25_1478-24delGT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1832-25_1832-24delGT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.478-25_478-24delGT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2107-25_2107-24delGT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1550-25_1550-24delGT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2345-25_2345-24delGT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2345-25_2345-24delGT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1865-25_1865-24delGT
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20618
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: GAC
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

12-111947452-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947452
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947452
    reference: chr 12
allele count: 2
allele frequency: 6.498570314530803e-5
allele num: 30776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2345-29C>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2107-29C>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1550-29C>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1550-29C>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.478-29C>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2345-29C>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1865-29C>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1832-29C>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1478-29C>G
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19368
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4479
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-111947461-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947461
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947461
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 29284
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2345-38A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1550-38A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1550-38A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2107-38A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1832-38A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1865-38A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1478-38A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2345-38A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.478-38A>G
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23853
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18667
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22635
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

12-111947652-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947652
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947652
    reference: chr 12
allele count: 1
allele frequency: 8.949026345933563e-6
allele num: 111744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2106+43A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1864+43A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1549+43A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2344+43A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1831+43A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.477+43A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1477+43A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1549+43A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2344+43A>G
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11390
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

12-111947652-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947652
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947653
    reference: chr 12
allele count: 1
allele frequency: 8.949026345933563e-6
allele num: 111744
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2344+42dupG
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1549+42dupG
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1549+42dupG
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1831+42dupG
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.477+42dupG
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2106+42dupG
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1864+42dupG
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2344+42dupG
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1477+42dupG
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11390
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

12-111947660-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947660
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947660
    reference: chr 12
allele count: 1
allele frequency: 8.915516565029779e-6
allele num: 112164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2344+35G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1864+35G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1477+35G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2106+35G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1549+35G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.477+35G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2344+35G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1549+35G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1831+35G>C
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11509
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

12-111947672-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947672
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947672
    reference: chr 12
allele count: 1
allele frequency: 8.744469123279526e-6
allele num: 114358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1477+23A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1549+23A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1831+23A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2344+23A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1549+23A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2344+23A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2106+23A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.477+23A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1864+23A>G
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4652
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3503
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

12-111947673-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947673
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947673
    reference: chr 12
allele count: 2
allele frequency: 1.74532253560458e-5
allele num: 114592
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1864+22A>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1549+22A>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1477+22A>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1549+22A>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2106+22A>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2344+22A>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2344+22A>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.477+22A>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1831+22A>C
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

12-111947676-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947676
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947676
    reference: chr 12
allele count: 2
allele frequency: 1.734424864714861e-5
allele num: 115312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2106+19A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1477+19A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2344+19A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1864+19A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1549+19A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1549+19A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.477+19A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2344+19A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1831+19A>G
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29918
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-111947680-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947680
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947680
    reference: chr 12
allele count: 2
allele frequency: 1.720607718646226e-5
allele num: 116238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2106+15A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2344+15A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1864+15A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1549+15A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.477+15A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1549+15A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1831+15A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2344+15A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1477+15A>G
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30760
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

12-111947687-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947687
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947685
    reference: chr 12
allele count: 26
allele frequency: 2.2069059179031e-4
allele num: 117812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1864+6_1864+7delAG
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2106+6_2106+7delAG
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1549+6_1549+7delAG
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1549+6_1549+7delAG
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1831+6_1831+7delAG
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1477+6_1477+7delAG
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2344+6_2344+7delAG
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2344+6_2344+7delAG
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.477+6_477+7delAG
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32378
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14146
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: c.2344+6_2344+7delAG
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: ACT
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

12-111947688-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947688
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947688
    reference: chr 12
allele count: 3
allele frequency: 2.543105640608311e-5
allele num: 117966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2106+7G>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2344+7G>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1477+7G>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1831+7G>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1549+7G>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.477+7G>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1864+7G>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1549+7G>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2344+7G>A
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2344+7G>A
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-111947692-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947692
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947692
    reference: chr 12
allele count: 1
allele frequency: 8.428292090890703e-6
allele num: 118648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1831+3T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2106+3T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1549+3T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2344+3T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2344+3T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1864+3T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.477+3T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1549+3T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1477+3T>C
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: c.2344+3T>C
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

12-111947703-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947703
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947703
    reference: chr 12
allele count: 1
allele frequency: 8.355754608198667e-6
allele num: 119678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.469A>T
  hgvsp: ENSP00000447225.2:p.Glu157Val
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1541A>T
  hgvsp: ENSP00000373805.4:p.Glu514Val
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2098A>T
  hgvsp: ENSP00000446512.1:p.Glu700Val
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2336A>T
  hgvsp: ENSP00000366843.3:p.Glu779Val
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1823A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1541A>T
  hgvsp: ENSP00000445583.2:p.Glu514Val
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1469A>T
  hgvsp: ENSP00000439338.1:p.Glu490Val
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1856A>T
  hgvsp: ENSP00000476504.1:p.Glu619Val
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2336A>T
  hgvsp: ENSP00000446576.1:p.Glu779Val
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5025
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu779Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

12-111947703-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947703
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947703
    reference: chr 12
allele count: 1
allele frequency: 8.355754608198667e-6
allele num: 119678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1469A>G
  hgvsp: ENSP00000439338.1:p.Glu490Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1541A>G
  hgvsp: ENSP00000445583.2:p.Glu514Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2098A>G
  hgvsp: ENSP00000446512.1:p.Glu700Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1541A>G
  hgvsp: ENSP00000373805.4:p.Glu514Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1856A>G
  hgvsp: ENSP00000476504.1:p.Glu619Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.469A>G
  hgvsp: ENSP00000447225.2:p.Glu157Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2336A>G
  hgvsp: ENSP00000366843.3:p.Glu779Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2336A>G
  hgvsp: ENSP00000446576.1:p.Glu779Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1823A>G
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu779Gly
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-111947712-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947712
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947712
    reference: chr 12
allele count: 1
allele frequency: 8.318913882603488e-6
allele num: 120208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.460C>T
  hgvsp: ENSP00000447225.2:p.Ser154Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1460C>T
  hgvsp: ENSP00000439338.1:p.Ser487Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1532C>T
  hgvsp: ENSP00000445583.2:p.Ser511Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1814C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2089C>T
  hgvsp: ENSP00000446512.1:p.Ser697Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1847C>T
  hgvsp: ENSP00000476504.1:p.Ser616Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1532C>T
  hgvsp: ENSP00000373805.4:p.Ser511Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2327C>T
  hgvsp: ENSP00000446576.1:p.Ser776Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2327C>T
  hgvsp: ENSP00000366843.3:p.Ser776Leu
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser776Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

12-111947721-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947721
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947721
    reference: chr 12
allele count: 2
allele frequency: 1.65953068472236e-5
allele num: 120516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.451C>G
  hgvsp: ENSP00000447225.2:p.Pro151Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1838C>G
  hgvsp: ENSP00000476504.1:p.Pro613Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2080C>G
  hgvsp: ENSP00000446512.1:p.Pro694Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2318C>G
  hgvsp: ENSP00000366843.3:p.Pro773Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1523C>G
  hgvsp: ENSP00000445583.2:p.Pro508Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1805C>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2318C>G
  hgvsp: ENSP00000446576.1:p.Pro773Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1523C>G
  hgvsp: ENSP00000373805.4:p.Pro508Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1451C>G
  hgvsp: ENSP00000439338.1:p.Pro484Arg
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro773Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-111947732-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947732
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947732
    reference: chr 12
allele count: 3
allele frequency: 2.482991508169042e-5
allele num: 120822
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2307T>G
  hgvsp: ENSP00000366843.3:p.Asn769Lys
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.695T>G
  hgvsp: ENSP00000448640.2:p.Asn232Lys
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.440T>G
  hgvsp: ENSP00000447225.2:p.Asn147Lys
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1512T>G
  hgvsp: ENSP00000445583.2:p.Asn504Lys
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1827T>G
  hgvsp: ENSP00000476504.1:p.Asn609Lys
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1512T>G
  hgvsp: ENSP00000373805.4:p.Asn504Lys
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2307T>G
  hgvsp: ENSP00000446576.1:p.Asn769Lys
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1794T>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1440T>G
  hgvsp: ENSP00000439338.1:p.Asn480Lys
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2069T>G
  hgvsp: ENSP00000446512.1:p.Asn690Lys
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15676
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn769Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-111947733-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947733
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947733
    reference: chr 12
allele count: 3
allele frequency: 2.482539472377611e-5
allele num: 120844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.694A>G
  hgvsp: ENSP00000448640.2:p.Asn232Ser
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1511A>G
  hgvsp: ENSP00000373805.4:p.Asn504Ser
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1439A>G
  hgvsp: ENSP00000439338.1:p.Asn480Ser
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2306A>G
  hgvsp: ENSP00000446576.1:p.Asn769Ser
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2306A>G
  hgvsp: ENSP00000366843.3:p.Asn769Ser
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.439A>G
  hgvsp: ENSP00000447225.2:p.Asn147Ser
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1511A>G
  hgvsp: ENSP00000445583.2:p.Asn504Ser
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1793A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1826A>G
  hgvsp: ENSP00000476504.1:p.Asn609Ser
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2068A>G
  hgvsp: ENSP00000446512.1:p.Asn690Ser
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn769Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-111947735-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947735
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947735
    reference: chr 12
allele count: 1
allele frequency: 8.273214640280627e-6
allele num: 120872
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2304C>T
  hgvsp: ENST00000377617.3:c.2304C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1509C>T
  hgvsp: ENST00000542287.2:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.692C>T
  hgvsp: ENST00000550236.1:c.692C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2066C>T
  hgvsp: ENST00000483311.1:c.2066C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1509C>T
  hgvsp: ENST00000389153.4:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1824C>T
  hgvsp: ENST00000608853.1:c.1824C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2304C>T
  hgvsp: ENST00000550104.1:c.2304C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.437C>T
  hgvsp: ENST00000492467.1:c.437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1437C>T
  hgvsp: ENST00000535949.1:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1791C>T
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro768Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

12-111947745-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947745
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947745
    reference: chr 12
allele count: 19
allele frequency: 1.571442749859397e-4
allele num: 120908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1781A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1499A>G
  hgvsp: ENSP00000373805.4:p.Asn500Ser
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1499A>G
  hgvsp: ENSP00000445583.2:p.Asn500Ser
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2294A>G
  hgvsp: ENSP00000446576.1:p.Asn765Ser
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2056A>G
  hgvsp: ENSP00000446512.1:p.Asn686Ser
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.427A>G
  hgvsp: ENSP00000447225.2:p.Asn143Ser
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2294A>G
  hgvsp: ENSP00000366843.3:p.Asn765Ser
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1427A>G
  hgvsp: ENSP00000439338.1:p.Asn476Ser
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.682A>G
  hgvsp: ENSP00000448640.2:p.Asn228Ser
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1814A>G
  hgvsp: ENSP00000476504.1:p.Asn605Ser
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn765Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-111947754-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947754
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947754
    reference: chr 12
allele count: 107
allele frequency: 8.854390784813478e-4
allele num: 120844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1805A>T
  hgvsp: ENSP00000476504.1:p.Asn602Ile
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.418A>T
  hgvsp: ENSP00000447225.2:p.Asn140Ile
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1418A>T
  hgvsp: ENSP00000439338.1:p.Asn473Ile
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1490A>T
  hgvsp: ENSP00000445583.2:p.Asn497Ile
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2047A>T
  hgvsp: ENSP00000446512.1:p.Asn683Ile
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1490A>T
  hgvsp: ENSP00000373805.4:p.Asn497Ile
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2285A>T
  hgvsp: ENSP00000366843.3:p.Asn762Ile
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.673A>T
  hgvsp: ENSP00000448640.2:p.Asn225Ile
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1772A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2285A>T
  hgvsp: ENSP00000446576.1:p.Asn762Ile
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 33488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5083
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn762Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

12-111947765-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947765
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947765
    reference: chr 12
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2274T>A
  hgvsp: ENST00000550104.1:c.2274T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.407T>A
  hgvsp: ENST00000492467.1:c.407T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1794T>A
  hgvsp: ENST00000608853.1:c.1794T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2274T>A
  hgvsp: ENST00000377617.3:c.2274T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2036T>A
  hgvsp: ENST00000483311.1:c.2036T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1407T>A
  hgvsp: ENST00000535949.1:c.1407T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.662T>A
  hgvsp: ENST00000550236.1:c.662T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1479T>A
  hgvsp: ENST00000389153.4:c.1479T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1761T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1479T>A
  hgvsp: ENST00000542287.2:c.1479T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser758Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/12-111947767-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947767
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947767
    reference: chr 12
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.405T>G
  hgvsp: ENSP00000447225.2:p.Ser136Ala
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2272T>G
  hgvsp: ENSP00000446576.1:p.Ser758Ala
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.660T>G
  hgvsp: ENSP00000448640.2:p.Ser221Ala
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1792T>G
  hgvsp: ENSP00000476504.1:p.Ser598Ala
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1477T>G
  hgvsp: ENSP00000445583.2:p.Ser493Ala
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2272T>G
  hgvsp: ENSP00000366843.3:p.Ser758Ala
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1477T>G
  hgvsp: ENSP00000373805.4:p.Ser493Ala
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1405T>G
  hgvsp: ENSP00000439338.1:p.Ser469Ala
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2034T>G
  hgvsp: ENSP00000446512.1:p.Ser679Ala
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1759T>G
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser758Ala
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-111947768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947768
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947768
    reference: chr 12
allele count: 2
allele frequency: 1.657385308936622e-5
allele num: 120672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1791C>T
  hgvsp: ENST00000608853.1:c.1791C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1404C>T
  hgvsp: ENST00000535949.1:c.1404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2033C>T
  hgvsp: ENST00000483311.1:c.2033C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1476C>T
  hgvsp: ENST00000389153.4:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1476C>T
  hgvsp: ENST00000542287.2:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.404C>T
  hgvsp: ENST00000492467.1:c.404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.659C>T
  hgvsp: ENST00000550236.1:c.659C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2271C>T
  hgvsp: ENST00000550104.1:c.2271C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2271C>T
  hgvsp: ENST00000377617.3:c.2271C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1758C>T
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15872
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn757Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-111947771-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947771
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947771
    reference: chr 12
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2030G>T
  hgvsp: ENSP00000446512.1:p.Gln677His
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1755G>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1788G>T
  hgvsp: ENSP00000476504.1:p.Gln596His
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1473G>T
  hgvsp: ENSP00000373805.4:p.Gln491His
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1401G>T
  hgvsp: ENSP00000439338.1:p.Gln467His
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1473G>T
  hgvsp: ENSP00000445583.2:p.Gln491His
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.401G>T
  hgvsp: ENSP00000447225.2:p.Gln134His
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2268G>T
  hgvsp: ENSP00000366843.3:p.Gln756His
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.656G>T
  hgvsp: ENSP00000448640.2:p.Gln219His
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2268G>T
  hgvsp: ENSP00000446576.1:p.Gln756His
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln756His
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

12-111947776-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947776
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947776
    reference: chr 12
allele count: 2
allele frequency: 1.661267547138467e-5
allele num: 120390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1750A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.651A>G
  hgvsp: ENSP00000448640.2:p.Arg218Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.396A>G
  hgvsp: ENSP00000447225.2:p.Arg133Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1468A>G
  hgvsp: ENSP00000445583.2:p.Arg490Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1396A>G
  hgvsp: ENSP00000439338.1:p.Arg466Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2025A>G
  hgvsp: ENSP00000446512.1:p.Arg676Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2263A>G
  hgvsp: ENSP00000446576.1:p.Arg755Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2263A>G
  hgvsp: ENSP00000366843.3:p.Arg755Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1783A>G
  hgvsp: ENSP00000476504.1:p.Arg595Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1468A>G
  hgvsp: ENSP00000373805.4:p.Arg490Gly
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15922
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg755Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

12-111947778-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947778
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947778
    reference: chr 12
allele count: 1
allele frequency: 8.314487162431821e-6
allele num: 120272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2261A>G
  hgvsp: ENSP00000446576.1:p.Gln754Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1748A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2261A>G
  hgvsp: ENSP00000366843.3:p.Gln754Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1466A>G
  hgvsp: ENSP00000445583.2:p.Gln489Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.649A>G
  hgvsp: ENSP00000448640.2:p.Gln217Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1466A>G
  hgvsp: ENSP00000373805.4:p.Gln489Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1781A>G
  hgvsp: ENSP00000476504.1:p.Gln594Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.394A>G
  hgvsp: ENSP00000447225.2:p.Gln132Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1394A>G
  hgvsp: ENSP00000439338.1:p.Gln465Arg
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2023A>G
  hgvsp: ENSP00000446512.1:p.Gln675Arg
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15925
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln754Arg
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-111947783-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947783
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947783
    reference: chr 12
allele count: 2
allele frequency: 1.667973245709139e-5
allele num: 119906
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.644A>G
  hgvsp: ENST00000550236.1:c.644A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1389A>G
  hgvsp: ENST00000535949.1:c.1389A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2256A>G
  hgvsp: ENST00000377617.3:c.2256A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2256A>G
  hgvsp: ENST00000550104.1:c.2256A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.389A>G
  hgvsp: ENST00000492467.1:c.389A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1743A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1776A>G
  hgvsp: ENST00000608853.1:c.1776A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1461A>G
  hgvsp: ENST00000389153.4:c.1461A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.2018A>G
  hgvsp: ENST00000483311.1:c.2018A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1461A>G
  hgvsp: ENST00000542287.2:c.1461A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln752Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

12-111947813-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947813
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947813
    reference: chr 12
allele count: 1
allele frequency: 9.335847788337658e-6
allele num: 107114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1442-11T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1370-11T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1757-11T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1999-11T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2237-11T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1724-11T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-11T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-11T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1442-11T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2237-11T>A
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26553
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

12-111947819-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947819
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947819
    reference: chr 12
allele count: 6
allele frequency: 5.803605973845082e-5
allele num: 103384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1724-17A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1370-17A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1999-17A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1757-17A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-17A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1442-17A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1442-17A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2237-17A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2237-17A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-17A>T
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16434
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11885
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3497
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20207
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-111947819-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947819
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947820
    reference: chr 12
allele count: 1
allele frequency: 9.672676623075138e-6
allele num: 103384
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1999-18dupT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1757-18dupT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-18dupT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1370-18dupT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1442-18dupT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1442-18dupT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1724-18dupT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2237-18dupT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2237-18dupT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-18dupT
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11885
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10964
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3750
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

12-111947819-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947819
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947818
    reference: chr 12
allele count: 3
allele frequency: 2.901802986922541e-5
allele num: 103384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1999-18delT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1442-18delT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1724-18delT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1370-18delT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-18delT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-18delT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2237-18delT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2237-18delT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1757-18delT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1442-18delT
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10964
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16434
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3994
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: TA
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

12-111947820-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947820
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947820
    reference: chr 12
allele count: 38
allele frequency: 3.681599751976438e-4
allele num: 103216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1442-18T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1999-18T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2237-18T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1370-18T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1724-18T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2237-18T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-18T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1442-18T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-18T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1757-18T>A
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11774
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10982
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 16502
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-111947825-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947825
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947825
    reference: chr 12
allele count: 1
allele frequency: 9.927134830345266e-6
allele num: 100734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-23T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1370-23T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1442-23T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1757-23T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1724-23T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1999-23T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-23T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1442-23T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2237-23T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2237-23T>A
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6011
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

12-111947828-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947828
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947828
    reference: chr 12
allele count: 2
allele frequency: 2.024127601003967e-5
allele num: 98808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-26A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1757-26A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1442-26A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1724-26A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2237-26A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2237-26A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1370-26A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-26A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1442-26A>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1999-26A>T
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

12-111947833-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947833
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947833
    reference: chr 12
allele count: 2
allele frequency: 2.063727918111276e-5
allele num: 96912
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1370-31T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2237-31T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1442-31T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1757-31T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2237-31T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-31T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1724-31T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1442-31T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1999-31T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-31T>C
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9515
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-111947845-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947845
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947845
    reference: chr 12
allele count: 1
allele frequency: 1.094020086208783e-5
allele num: 91406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1999-43T>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1724-43T>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1442-43T>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2237-43T>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1370-43T>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-43T>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-43T>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2237-43T>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1442-43T>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1757-43T>G
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18927
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7778
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

12-111947845-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947845
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947845
    reference: chr 12
allele count: 1
allele frequency: 1.094020086208783e-5
allele num: 91406
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2237-43T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-43T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1724-43T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-43T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1442-43T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2237-43T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1442-43T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1370-43T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1999-43T>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1757-43T>C
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11394
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7778
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4886
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

12-111947846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947846
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947846
    reference: chr 12
allele count: 1
allele frequency: 1.098901098901099e-5
allele num: 91000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-44C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1724-44C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2237-44C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1442-44C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2237-44C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1442-44C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-44C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1757-44C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1370-44C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1999-44C>T
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11808
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18961
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ

12-111947848-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947848
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947848
    reference: chr 12
allele count: 1
allele frequency: 1.140849248180345e-5
allele num: 87654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1370-46T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1442-46T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1442-46T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2237-46T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-46T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2237-46T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1757-46T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-46T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1724-46T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1999-46T>A
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5390
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

12-111947852-CAAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111947852
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111947849
    reference: chr 12
allele count: 1
allele frequency: 1.150403791730898e-5
allele num: 86926
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1370-53_1370-51delCTT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2237-53_2237-51delCTT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-53_370-51delCTT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1757-53_1757-51delCTT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1999-53_1999-51delCTT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2237-53_2237-51delCTT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1724-53_1724-51delCTT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-53_625-51delCTT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1442-53_1442-51delCTT
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1442-53_1442-51delCTT
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11075
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5561
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: CAAG
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

12-111948138-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111948138
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111948138
    reference: chr 12
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1756+51G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1723+51G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2236+51G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2236+51G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1369+51G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1998+51G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-336G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1441+51G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1441+51G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-336G>C
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

12-111948144-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111948144
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111948144
    reference: chr 12
allele count: 3
allele frequency: 2.482786016949153e-5
allele num: 120832
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2236+45T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1441+45T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2236+45T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1441+45T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-342T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1369+45T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1723+45T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1998+45T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1756+45T>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-342T>A
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-111948150-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111948150
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111948150
    reference: chr 12
allele count: 1
allele frequency: 8.277597510098669e-6
allele num: 120808
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2236+39G>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1441+39G>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-348G>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1998+39G>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2236+39G>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1723+39G>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1756+39G>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1441+39G>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1369+39G>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-348G>T
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-111948152-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111948152
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111948152
    reference: chr 12
allele count: 12
allele frequency: 9.926707807355691e-5
allele num: 120886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1369+37C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2236+37C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1756+37C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-350C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1441+37C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1723+37C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-350C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1998+37C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2236+37C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1441+37C>T
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-111948153-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111948153
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111948153
    reference: chr 12
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1723+36G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2236+36G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1756+36G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-351G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1441+36G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1369+36G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2236+36G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1441+36G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-351G>C
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1998+36G>C
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS

12-111948163-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111948163
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111948163
    reference: chr 12
allele count: 3
allele frequency: 2.479748718796495e-5
allele num: 120980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-361C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2236+26C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1441+26C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-361C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1998+26C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2236+26C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1441+26C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1756+26C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1723+26C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1369+26C>T
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

12-111948178-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111948178
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111948178
    reference: chr 12
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1756+11A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2236+11A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1998+11A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2236+11A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1369+11A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1723+11A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-376A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1441+11A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1441+11A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-376A>G
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

12-111948179-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111948179
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111948179
    reference: chr 12
allele count: 2
allele frequency: 1.65000165000165e-5
allele num: 121212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1723+10A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1756+10A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1441+10A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1369+10A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-377A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1441+10A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2236+10A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1998+10A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2236+10A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-377A>G
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS

12-111948189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111948189
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111948189
    reference: chr 12
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1723G>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2236G>A
  hgvsp: ENSP00000446576.1:p.Ala746Thr
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1998G>A
  hgvsp: ENSP00000446512.1:p.Ala667Thr
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-387G>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-387G>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1441G>A
  hgvsp: ENSP00000445583.2:p.Ala481Thr
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2236G>A
  hgvsp: ENSP00000366843.3:p.Ala746Thr
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1369G>A
  hgvsp: ENSP00000439338.1:p.Ala457Thr
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1756G>A
  hgvsp: ENSP00000476504.1:p.Ala586Thr
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1441G>A
  hgvsp: ENSP00000373805.4:p.Ala481Thr
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala746Thr
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-111948195-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111948195
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111948195
    reference: chr 12
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1992A>G
  hgvsp: ENSP00000446512.1:p.Ser665Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1717A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1363A>G
  hgvsp: ENSP00000439338.1:p.Ser455Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-393A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-393A>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2230A>G
  hgvsp: ENSP00000366843.3:p.Ser744Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1435A>G
  hgvsp: ENSP00000445583.2:p.Ser479Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2230A>G
  hgvsp: ENSP00000446576.1:p.Ser744Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1750A>G
  hgvsp: ENSP00000476504.1:p.Ser584Gly
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1435A>G
  hgvsp: ENSP00000373805.4:p.Ser479Gly
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42257
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser744Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-111948197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111948197
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111948197
    reference: chr 12
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1748C>T
  hgvsp: ENSP00000476504.1:p.Ser583Phe
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-395C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2228C>T
  hgvsp: ENSP00000366843.3:p.Ser743Phe
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1361C>T
  hgvsp: ENSP00000439338.1:p.Ser454Phe
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1990C>T
  hgvsp: ENSP00000446512.1:p.Ser664Phe
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1433C>T
  hgvsp: ENSP00000373805.4:p.Ser478Phe
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-395C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2228C>T
  hgvsp: ENSP00000446576.1:p.Ser743Phe
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1715C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1433C>T
  hgvsp: ENSP00000445583.2:p.Ser478Phe
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser743Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

12-111948200-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111948200
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111948200
    reference: chr 12
allele count: 5
allele frequency: 4.120313143798929e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-398C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1430C>T
  hgvsp: ENSP00000445583.2:p.Pro477Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1430C>T
  hgvsp: ENSP00000373805.4:p.Pro477Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1745C>T
  hgvsp: ENSP00000476504.1:p.Pro582Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2225C>T
  hgvsp: ENSP00000366843.3:p.Pro742Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1987C>T
  hgvsp: ENSP00000446512.1:p.Pro663Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2225C>T
  hgvsp: ENSP00000446576.1:p.Pro742Leu
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1712C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-398C>T
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1358C>T
  hgvsp: ENSP00000439338.1:p.Pro453Leu
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 9301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro742Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum

12-111948201-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111948201
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111948201
    reference: chr 12
allele count: 13
allele frequency: 1.071175491504754e-4
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2224C>G
  hgvsp: ENSP00000446576.1:p.Pro742Ala
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1744C>G
  hgvsp: ENSP00000476504.1:p.Pro582Ala
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1429C>G
  hgvsp: ENSP00000445583.2:p.Pro477Ala
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-399C>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1357C>G
  hgvsp: ENSP00000439338.1:p.Pro453Ala
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1429C>G
  hgvsp: ENSP00000373805.4:p.Pro477Ala
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1711C>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2224C>G
  hgvsp: ENSP00000366843.3:p.Pro742Ala
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1986C>G
  hgvsp: ENSP00000446512.1:p.Pro663Ala
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-399C>G
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro742Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

12-111948203-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111948203
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111948203
    reference: chr 12
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1984C>A
  hgvsp: ENSP00000446512.1:p.Thr662Asn
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-401C>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1355C>A
  hgvsp: ENSP00000439338.1:p.Thr452Asn
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2222C>A
  hgvsp: ENSP00000366843.3:p.Thr741Asn
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1427C>A
  hgvsp: ENSP00000445583.2:p.Thr476Asn
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1709C>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-401C>A
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1742C>A
  hgvsp: ENSP00000476504.1:p.Thr581Asn
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1427C>A
  hgvsp: ENSP00000373805.4:p.Thr476Asn
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2222C>A
  hgvsp: ENSP00000446576.1:p.Thr741Asn
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9307
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr741Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-111948214-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 111948214
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 111948214
    reference: chr 12
allele count: 9
allele frequency: 7.414364094706144e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000445583
  ensembl transcript: ENST00000542287
  gene symbol: ATXN2
  hgvsc: ENST00000542287.2:c.1416C>G
  hgvsp: ENSP00000445583.2:p.Asn472Lys
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446512
  ensembl transcript: ENST00000483311
  gene symbol: ATXN2
  hgvsc: ENST00000483311.1:c.1973C>G
  hgvsp: ENSP00000446512.1:p.Asn658Lys
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000439338
  ensembl transcript: ENST00000535949
  gene symbol: ATXN2
  hgvsc: ENST00000535949.1:c.1344C>G
  hgvsp: ENSP00000439338.1:p.Asn448Lys
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000476504
  ensembl transcript: ENST00000608853
  gene symbol: ATXN2
  hgvsc: ENST00000608853.1:c.1731C>G
  hgvsp: ENSP00000476504.1:p.Asn577Lys
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000448640
  ensembl transcript: ENST00000550236
  gene symbol: ATXN2
  hgvsc: ENST00000550236.1:c.625-412C>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000446576
  ensembl transcript: ENST00000550104
  gene symbol: ATXN2
  hgvsc: ENST00000550104.1:c.2211C>G
  hgvsp: ENSP00000446576.1:p.Asn737Lys
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000366843
  ensembl transcript: ENST00000377617
  gene symbol: ATXN2
  hgvsc: ENST00000377617.3:c.2211C>G
  hgvsp: ENSP00000366843.3:p.Asn737Lys
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000204842
  ensembl transcript: ENST00000546483
  gene symbol: ATXN2
  hgvsc: ENST00000546483.1:n.1698C>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000447225
  ensembl transcript: ENST00000492467
  gene symbol: ATXN2
  hgvsc: ENST00000492467.1:c.370-412C>G
  variant of: http://identifiers.org/hgnc/10555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204842
  ensembl protein: ENSP00000373805
  ensembl transcript: ENST00000389153
  gene symbol: ATXN2
  hgvsc: ENST00000389153.4:c.1416C>G
  hgvsp: ENSP00000373805.4:p.Asn472Lys
  variant of: http://identifiers.org/hgnc/10555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn737Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum

GenotypeQuality
all individuals: 461
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1283
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20388
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3295
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5133
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6201
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2325
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2108
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 8.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1878
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 4.7794e5

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.23e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.49e1

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

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

GenotypeQuality
all individuals: 4815
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 373
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24494
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6811
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4431
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2771
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 215
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.25e-2

DP
type: SiteQuality
SIO_000300: 6.2395e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.42e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

GenotypeQuality
all individuals: 24873
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7504
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2771
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4619
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3504
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 505
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2818
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.569e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.521e1

DP
type: SiteQuality
SIO_000300: 6.26955e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-2

GenotypeQuality
all individuals: 3399
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24967
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4496
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2819
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4517
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.417434443656981e-3
allele num: 2822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.906e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.18e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
type: SiteQuality
SIO_000300: 1.711e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 8.35e-1

DP
type: SiteQuality
SIO_000300: 6.28421e5

VQSLOD
type: SiteQuality
SIO_000300: -9.147e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.79e-1

GenotypeQuality
all individuals: 24486
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5268
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2771
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.0351966873706e-3
allele num: 966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2944
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.52e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

QD
type: SiteQuality
SIO_000300: 9.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 6.69548e5

GenotypeQuality
all individuals: 2038
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15713
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5333
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 988
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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DP
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QD
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 1250
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 12838
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.18e0

MQRankSum
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DP
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BaseQRankSum
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QD
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FS
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 8582
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 13742
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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QD
type: SiteQuality
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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MQ
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.41e0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1384
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14680
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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.68e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.794999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

BaseQRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 7.80862e5

QD
type: SiteQuality
SIO_000300: 5.18e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 3756
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1372
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 8652
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European (Non-Finnish)
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allele frequency: 6.79532481652623e-5
allele num: 14716
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.67e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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ReadPosRankSum
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SIO_000300: 6.94e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -8.49e-1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.855e1

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

East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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DP
type: SiteQuality
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MQRankSum
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VQSLOD
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MQ
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 328
num of homozygotes: 0

Latino
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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FS
type: SiteQuality
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DP
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BaseQRankSum
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QD
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MQ
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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East Asian
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Other
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Latino
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ReadPosRankSum
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FS
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QD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Other
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African
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East Asian
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -1.589e0

FS
type: SiteQuality
SIO_000300: 7.887e0

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.93796e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

QD
type: SiteQuality
SIO_000300: 1.343e1

GenotypeQuality
all individuals: 348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2696
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4803
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10913
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1272
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3442
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.49e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.064e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.29e-1

DP
type: SiteQuality
SIO_000300: 6.62476e5

QD
type: SiteQuality
SIO_000300: 9.42e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

GenotypeQuality
all individuals: 398
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3833
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4319
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3881
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.663893510815308e-5
allele num: 60100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15784
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 6.083e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.471709e6

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23025
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5208
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3833
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4598
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3881
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.663893510815308e-5
allele num: 60100
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.471709e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.083e1

GenotypeQuality
all individuals: 4389
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4383
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2122
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1019
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variant carriers: 0

GenotypeQuality
all individuals: 3828
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.554726368159204e-4
allele num: 6432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10716
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.332e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.523904e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.241e0

VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

GenotypeQuality
all individuals: 488
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.5e0
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GenotypeQuality
all individuals: 514
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variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2028
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3827
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 459
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variant carriers: 0

GenotypeQuality
all individuals: 38195
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.617128626410945e-5
allele num: 61838
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

FS
type: SiteQuality
SIO_000300: 8.2e-1

DP
type: SiteQuality
SIO_000300: 1.604819e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.06e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

GenotypeQuality
all individuals: 3828
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39060
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.225182222795588e-5
allele num: 62012
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.65e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.611354e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.284e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 1138
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GenotypeQuality
all individuals: 436
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.200512081933109e-5
allele num: 62490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16032
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

QD
type: SiteQuality
SIO_000300: 1.614e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.627639e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
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GenotypeQuality
all individuals: 283
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1070
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 722
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GenotypeQuality
all individuals: 3829
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.244245365186015e-4
allele num: 16074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.54e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 1.803e0

DP
type: SiteQuality
SIO_000300: 1.646783e6

GenotypeQuality
all individuals: 199
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 3.25e1
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GenotypeQuality
all individuals: 1067
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variant carriers: 0

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

GenotypeQuality
all individuals: 713
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4880
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44180
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3854
bin: 9.75e1
variant carriers: 26

GenotypeQuality
all individuals: 1870
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 4.044929836024768e-4
allele num: 64278
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.889999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.674317e6

MQRankSum
type: SiteQuality
SIO_000300: 6.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

QD
type: SiteQuality
SIO_000300: 1.675e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

GenotypeQuality
all individuals: 1148
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44376
bin: 6.25e1
variant carriers: 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: 10208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553229163430773e-5
allele num: 64382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.770851779706039e-4
allele num: 11294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16166
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

QD
type: SiteQuality
SIO_000300: 1.095e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.034e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.676956e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 349
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 294
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variant carriers: 0

GenotypeQuality
all individuals: 3827
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17343346632246e-4
allele num: 8522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64842
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

QD
type: SiteQuality
SIO_000300: 1.013e1

DP
type: SiteQuality
SIO_000300: 1.686279e6

FS
type: SiteQuality
SIO_000300: 1.139e0

VQSLOD
type: SiteQuality
SIO_000300: -7.959000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.912e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.449e0

GenotypeQuality
all individuals: 292
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65578
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.129704548240775e-5
allele num: 16314
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 3.037e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.72e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

DP
type: SiteQuality
SIO_000300: 1.700934e6

MQRankSum
type: SiteQuality
SIO_000300: -3.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 942
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 716
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variant carriers: 0

GenotypeQuality
all individuals: 3826
bin: 9.75e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524901643843972e-5
allele num: 65578
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 1.700934e6

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 3.037e0

MQRankSum
type: SiteQuality
SIO_000300: -3.09e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.72e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

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

GenotypeQuality
all individuals: 46551
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 175
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 3824
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.111722283339445e-5
allele num: 16362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
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: 0
allele frequency: 0.0e0
allele num: 65956
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.88e-1

FS
type: SiteQuality
SIO_000300: 9.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.808e0

QD
type: SiteQuality
SIO_000300: 1.148e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

DP
type: SiteQuality
SIO_000300: 1.709941e6

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.219512195121951e-4
allele num: 16400
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.715332e6

QD
type: SiteQuality
SIO_000300: 1.218e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.598e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.82e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

GenotypeQuality
all individuals: 64
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

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

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

African
type: Population
allele count: 3
allele frequency: 2.897990726429675e-4
allele num: 10352
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

FS
type: SiteQuality
SIO_000300: 4.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.28e-1

DP
type: SiteQuality
SIO_000300: 1.720502e6

QD
type: SiteQuality
SIO_000300: 1.418e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 708
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506205566935775e-5
allele num: 66392
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.216841080554879e-4
allele num: 16436
num of homozygotes: 0

QD
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SIO_000300: 1.468e1

BaseQRankSum
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MQRankSum
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SIO_000300: 2.3e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
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SIO_000300: 8.37e-1

DP
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SIO_000300: 1.72062e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.719e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66410
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
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: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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BaseQRankSum
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QD
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SIO_000300: 1.095e1

ReadPosRankSum
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SIO_000300: 2.44e-1

MQRankSum
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SIO_000300: -6.889999999999999e-1

ClippingRankSum
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SIO_000300: -7.72e-1

DP
type: SiteQuality
SIO_000300: 1.72147e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10346
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.736111111111111e-4
allele num: 11520
num of homozygotes: 0

South Asian
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allele count: 9
allele frequency: 5.470459518599562e-4
allele num: 16452
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 8
allele frequency: 1.204202667308908e-4
allele num: 66434
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

DP
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SIO_000300: 1.722719e6

VQSLOD
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SIO_000300: 2.95e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.367e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 107

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

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

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

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

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

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 103
allele frequency: 1.192405649455893e-2
allele num: 8638
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.35e-1

FS
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 1.107e1

DP
type: SiteQuality
SIO_000300: 1.726339e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.712509712509713e-5
allele num: 10296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66358
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.718988e6

BaseQRankSum
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SIO_000300: -1.888e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.08e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 7.237e0

MQRankSum
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SIO_000300: 1.6e0

VQSLOD
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ClippingRankSum
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SIO_000300: 1.14e0

MQ
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SIO_000300: 5.912e1

QD
type: SiteQuality
SIO_000300: 8.960000000000001e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10290
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
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: 1
allele frequency: 1.507340749449821e-5
allele num: 66342
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.047e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.015408738654524e-5
allele num: 66326
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.249e0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508705229172324e-5
allele num: 66282
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
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: 8626
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.954270080125073e-4
allele num: 10234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66160
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 1.41e1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 1.714334e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66072
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.107243190423842e-5
allele num: 16374
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.529e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

FS
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SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.712708e6

MQRankSum
type: SiteQuality
SIO_000300: 9.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

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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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.037851631326326e-5
allele num: 65836
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.707574e6

VQSLOD
type: SiteQuality
SIO_000300: 8.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 420
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.744896178677369e-5
allele num: 57310
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 1.392e0

VQSLOD
type: SiteQuality
SIO_000300: -1.605e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.428e0

MQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

DP
type: SiteQuality
SIO_000300: 1.465361e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.415e0

QD
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 485
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GenotypeQuality
all individuals: 361
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.012882447665056e-4
allele num: 9936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8730
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.314924391847469e-4
allele num: 15210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.820366257691047e-5
allele num: 54934
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.324854266030737e-4
allele num: 7548
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

FS
type: SiteQuality
SIO_000300: 4.743e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

DP
type: SiteQuality
SIO_000300: 1.386207e6

QD
type: SiteQuality
SIO_000300: 7.8e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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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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bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7548
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.574621959237344e-5
allele num: 15210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54934
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.386207e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

FS
type: SiteQuality
SIO_000300: 4.743e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.8e0

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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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
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bin: 4.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3750
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8730
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.97456279809221e-4
allele num: 7548
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.386207e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 4.743e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

QD
type: SiteQuality
SIO_000300: 7.8e0

GenotypeQuality
all individuals: 3987
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 37

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 654
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 5.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.92269544924154e-4
allele num: 54848
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.645401382243488e-4
allele num: 7524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.605136436597111e-4
allele num: 6230
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.317523056653491e-4
allele num: 15180
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.03030303030303e-4
allele num: 9900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQRankSum
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SIO_000300: 2.27e-1

BaseQRankSum
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SIO_000300: -1.2e0

FS
type: SiteQuality
SIO_000300: 2.265e0

QD
type: SiteQuality
SIO_000300: 8.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

DP
type: SiteQuality
SIO_000300: 1.385031e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 17982
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.169317118802619e-4
allele num: 8552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53098
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.223e0

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.45e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.290399e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

GenotypeQuality
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variant carriers: 2

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

East Asian
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allele count: 2
allele frequency: 2.780094523213789e-4
allele num: 7194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14910
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.051e0

MQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

FS
type: SiteQuality
SIO_000300: 3.608e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

QD
type: SiteQuality
SIO_000300: 1.153e1

DP
type: SiteQuality
SIO_000300: 1.259256e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.40805406927626e-4
allele num: 7102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.202501202501203e-4
allele num: 8316
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1

QD
type: SiteQuality
SIO_000300: 1.628e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e0

DP
type: SiteQuality
SIO_000300: 1.224546e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.258494840171155e-4
allele num: 7946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5916
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 1.162501e6

VQSLOD
type: SiteQuality
SIO_000300: -1.586e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

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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bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5916
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.48720999405116e-4
allele num: 6724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47010
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.162501e6

VQSLOD
type: SiteQuality
SIO_000300: -1.586e-1

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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.137574280706254e-5
allele num: 46782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8734
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5890
num of homozygotes: 0

African
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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
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.095e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.663e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44566
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South Asian
type: Population
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East Asian
type: Population
allele count: 1
allele frequency: 1.550868486352357e-4
allele num: 6448
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

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

FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.147904e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele num: 720
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8232
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.26090888537192e-5
allele num: 44230
num of homozygotes: 0

QD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.187e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.26e-1

MQ
type: SiteQuality
SIO_000300: 5.701e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

DP
type: SiteQuality
SIO_000300: 1.145738e6

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2046
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.195019204559534e-5
allele num: 16142
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.367754e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

QD
type: SiteQuality
SIO_000300: 1.716e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.913e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 42261
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1909
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
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: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.511006856730422e-5
allele num: 66504
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.33e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.179e0

FS
type: SiteQuality
SIO_000300: 9.64e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

DP
type: SiteQuality
SIO_000300: 3.371404e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 16218
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.365e0

VQSLOD
type: SiteQuality
SIO_000300: 3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQRankSum
type: SiteQuality
SIO_000300: -4.27e-1

DP
type: SiteQuality
SIO_000300: 3.375976e6

MQ
type: SiteQuality
SIO_000300: 5.932e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.426e0

QD
type: SiteQuality
SIO_000300: 1.163e1

GenotypeQuality
all individuals: 338
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2040
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 12

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: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 295
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variant carriers: 0

GenotypeQuality
all individuals: 7311
bin: 6.25e1
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: 66520
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 12
allele frequency: 7.375537799631224e-4
allele num: 16270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.944e1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

DP
type: SiteQuality
SIO_000300: 3.377946e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.338e1

FS
type: SiteQuality
SIO_000300: 2.424e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.189e0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
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: 66518
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: 1
allele frequency: 6.159911297277319e-5
allele num: 16234
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.27e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.317e0

DP
type: SiteQuality
SIO_000300: 3.378927e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005168890491646e-5
allele num: 66552
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.207e1

MQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

FS
type: SiteQuality
SIO_000300: 7.4e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.397e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.386608e6

GenotypeQuality
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variant carriers: 0

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

East Asian
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: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

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

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

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.774e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
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: 1.46e0

InbreedingCoeff
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SIO_000300: 1.36e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.75e-1

DP
type: SiteQuality
SIO_000300: 3.396123e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

QD
type: SiteQuality
SIO_000300: 1.468e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

FS
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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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: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16480
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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.484e0

FS
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SIO_000300: 9.021000000000001e0

DP
type: SiteQuality
SIO_000300: 3.399038e6

VQSLOD
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SIO_000300: -8.707e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-1

QD
type: SiteQuality
SIO_000300: 1.101e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.73e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.348e0

VQSLOD
type: SiteQuality
SIO_000300: -1.267e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

DP
type: SiteQuality
SIO_000300: 3.399685e6

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.93e-2

MQ
type: SiteQuality
SIO_000300: 5.763e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

QD
type: SiteQuality
SIO_000300: 1.072e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 3.399997e6

QD
type: SiteQuality
SIO_000300: 1.29e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.429e0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.93e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

African
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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

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.998260504453708e-5
allele num: 66686
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.14e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 13

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: 66694
num of homozygotes: 0

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

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

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

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

African
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allele count: 13
allele frequency: 1.249279261964251e-3
allele num: 10406
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 3.401107e6

GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
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Latino
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South Asian
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MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
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QD
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DP
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 9
allele frequency: 5.450581395348837e-4
allele num: 16512
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
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ClippingRankSum
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