6-70964812-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964812
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964812
    reference: chr 6
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.257+41A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1611+41A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.584+41A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.703+41A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.882+41A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.882+41A>G
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44792
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59438
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

6-70964813-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964813
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964813
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.882+40G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1611+40G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.257+40G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.584+40G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.703+40G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.882+40G>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59437
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

6-70964837-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964837
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964837
    reference: chr 6
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.703+16T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.882+16T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.882+16T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.584+16T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.257+16T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1611+16T>C
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44793
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 170
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-70964849-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964849
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964849
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.703+4T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.584+4T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.257+4T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.882+4T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1611+4T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.882+4T>C
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1611+4T>C
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

6-70964849-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964849
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964849
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.257+4T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.882+4T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1611+4T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.584+4T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.882+4T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.703+4T>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1611+4T>A
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

6-70964853-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964853
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964853
    reference: chr 6
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1611G>A
  hgvsp: ENST00000357250.6:c.1611G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.257G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.882G>A
  hgvsp: ENST00000370499.4:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.882G>A
  hgvsp: ENST00000320755.7:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.703G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.584G>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44793
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1611G>A
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

6-70964854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964854
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964854
    reference: chr 6
allele count: 18
allele frequency: 1.482555266365763e-4
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1610C>T
  hgvsp: ENSP00000349790.6:p.Thr537Met
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.583C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.881C>T
  hgvsp: ENSP00000359530.4:p.Thr294Met
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.256C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.702C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.881C>T
  hgvsp: ENSP00000315252.7:p.Thr294Met
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44794
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr537Met
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

6-70964856-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964856
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964856
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.254C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.581C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.879C>T
  hgvsp: ENST00000320755.7:c.879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.700C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1608C>T
  hgvsp: ENST00000357250.6:c.1608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.879C>T
  hgvsp: ENST00000370499.4:c.879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44789
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59434
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp536Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

6-70964866-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964866
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964866
    reference: chr 6
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.571C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.244C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.690C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.869C>T
  hgvsp: ENSP00000359530.4:p.Pro290Leu
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.869C>T
  hgvsp: ENSP00000315252.7:p.Pro290Leu
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1598C>T
  hgvsp: ENSP00000349790.6:p.Pro533Leu
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44789
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59434
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro533Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

6-70964868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964868
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964868
    reference: chr 6
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.688G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.867G>A
  hgvsp: ENST00000370499.4:c.867G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1596G>A
  hgvsp: ENST00000357250.6:c.1596G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.242G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.569G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.867G>A
  hgvsp: ENST00000320755.7:c.867G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44788
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59435
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly532Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

6-70964893-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964893
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964893
    reference: chr 6
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1571C>T
  hgvsp: ENSP00000349790.6:p.Ala524Val
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.217C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.544C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.842C>T
  hgvsp: ENSP00000315252.7:p.Ala281Val
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.842C>T
  hgvsp: ENSP00000359530.4:p.Ala281Val
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.663C>T
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44787
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala524Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

6-70964895-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964895
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964895
    reference: chr 6
allele count: 83
allele frequency: 6.836339675479779e-4
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.840T>A
  hgvsp: ENST00000370499.4:c.840T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1569T>A
  hgvsp: ENST00000357250.6:c.1569T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.542T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.661T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.840T>A
  hgvsp: ENST00000320755.7:c.840T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.215T>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44791
  bin: 9.75e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly523Gly
num of homozygotes: 1
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

6-70964902-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964902
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964902
    reference: chr 6
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.833C>T
  hgvsp: ENSP00000315252.7:p.Ala278Val
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.535C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1562C>T
  hgvsp: ENSP00000349790.6:p.Ala521Val
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.208C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.833C>T
  hgvsp: ENSP00000359530.4:p.Ala278Val
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.654C>T
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44775
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala521Val
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

6-70964906-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964906
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964906
    reference: chr 6
allele count: 5
allele frequency: 4.11834475487612e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.650G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.829G>A
  hgvsp: ENSP00000315252.7:p.Gly277Arg
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1558G>A
  hgvsp: ENSP00000349790.6:p.Gly520Arg
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.531G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.204G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.829G>A
  hgvsp: ENSP00000359530.4:p.Gly277Arg
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44774
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly520Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

6-70964913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964913
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964913
    reference: chr 6
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.650-7C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.829-7C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.531-7C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.829-7C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1558-7C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.204-7C>T
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44774
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1558-7C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

6-70964924-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964924
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964924
    reference: chr 6
allele count: 7
allele frequency: 5.765777638666952e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.531-18T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.650-18T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.829-18T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.204-18T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.829-18T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1558-18T>C
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44773
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-70964936-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964936
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964936
    reference: chr 6
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.829-30C>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1558-30C>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.531-30C>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.650-30C>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.204-30C>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.829-30C>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44773
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

6-70964937-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964937
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964937
    reference: chr 6
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.531-31T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.650-31T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.204-31T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.829-31T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.829-31T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1558-31T>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44773
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

6-70964951-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964951
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964951
    reference: chr 6
allele count: 424
allele frequency: 3.49235635213495e-3
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.204-45G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1558-45G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.531-45G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.829-45G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.650-45G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.829-45G>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44784
  bin: 9.75e1
  variant carriers: 327
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 8.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 10
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

6-70964952-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964952
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964952
    reference: chr 6
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.531-46T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.829-46T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.829-46T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.650-46T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.204-46T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1558-46T>C
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44788
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59441
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

6-70964952-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964952
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964952
    reference: chr 6
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.650-46T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.204-46T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1558-46T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.829-46T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.531-46T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.829-46T>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44788
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59441
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

6-70964952-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964952
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964951
    reference: chr 6
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.204-47delA
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.829-47delA
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1558-47delA
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.829-47delA
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.531-47delA
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.650-47delA
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44788
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59441
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: AT
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

6-70964989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964989
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964989
    reference: chr 6
allele count: 166
allele frequency: 1.367267935095956e-3
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1557+51C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.828+51C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.203+51C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.828+51C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.530+51C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.649+51C>T
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8745
  bin: 9.75e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

6-70964995-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964995
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964995
    reference: chr 6
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.530+45C>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.828+45C>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.828+45C>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1557+45C>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.203+45C>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.649+45C>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49521
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-70964997-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70964997
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70964997
    reference: chr 6
allele count: 10
allele frequency: 8.23641814647646e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.649+43G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.203+43G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.530+43G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.828+43G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1557+43G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.828+43G>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8607
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49517
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/6-70965028-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965028
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965028
    reference: chr 6
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.530+12T>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.828+12T>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.203+12T>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1557+12T>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.649+12T>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.828+12T>G
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49515
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

6-70965036-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965036
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965036
    reference: chr 6
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.828+4A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.828+4A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.203+4A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.649+4A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1557+4A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.530+4A>G
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1557+4A>G
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

6-70965043-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965043
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965043
    reference: chr 6
allele count: 21
allele frequency: 1.729733291600086e-4
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.646T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.527T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1554T>C
  hgvsp: ENST00000357250.6:c.1554T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.825T>C
  hgvsp: ENST00000320755.7:c.825T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.825T>C
  hgvsp: ENST00000370499.4:c.825T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.200T>C
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp518Asp
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

6-70965044-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965044
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965044
    reference: chr 6
allele count: 33
allele frequency: 2.718107538218239e-4
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.199A>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.824A>T
  hgvsp: ENSP00000359530.4:p.Asp275Val
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.645A>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.526A>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.824A>T
  hgvsp: ENSP00000315252.7:p.Asp275Val
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1553A>T
  hgvsp: ENSP00000349790.6:p.Asp518Val
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8592
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp518Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

6-70965061-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965061
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965061
    reference: chr 6
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.182A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.509A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.628A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.807A>G
  hgvsp: ENST00000320755.7:c.807A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.807A>G
  hgvsp: ENST00000370499.4:c.807A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1536A>G
  hgvsp: ENST00000357250.6:c.1536A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49502
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu512Glu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

6-70965063-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965063
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965063
    reference: chr 6
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.805G>A
  hgvsp: ENSP00000359530.4:p.Glu269Lys
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.805G>A
  hgvsp: ENSP00000315252.7:p.Glu269Lys
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1534G>A
  hgvsp: ENSP00000349790.6:p.Glu512Lys
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.626G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.507G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.180G>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu512Lys
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

6-70965067-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965067
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965067
    reference: chr 6
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.801A>C
  hgvsp: ENST00000320755.7:c.801A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.503A>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1530A>C
  hgvsp: ENST00000357250.6:c.1530A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.801A>C
  hgvsp: ENST00000370499.4:c.801A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.622A>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.176A>C
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49501
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro510Pro
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

6-70965077-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965077
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965077
    reference: chr 6
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.791G>A
  hgvsp: ENSP00000359530.4:p.Arg264Gln
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.493G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.166G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.791G>A
  hgvsp: ENSP00000315252.7:p.Arg264Gln
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.612G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1520G>A
  hgvsp: ENSP00000349790.6:p.Arg507Gln
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49499
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg507Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

6-70965082-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965082
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965082
    reference: chr 6
allele count: 3
allele frequency: 2.471495419495156e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.786A>G
  hgvsp: ENST00000320755.7:c.786A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.161A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.786A>G
  hgvsp: ENST00000370499.4:c.786A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1515A>G
  hgvsp: ENST00000357250.6:c.1515A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.607A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.488A>G
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8563
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly505Gly
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

6-70965092-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965092
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965092
    reference: chr 6
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.776G>A
  hgvsp: ENSP00000359530.4:p.Gly259Asp
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.597G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1505G>A
  hgvsp: ENSP00000349790.6:p.Gly502Asp
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.776G>A
  hgvsp: ENSP00000315252.7:p.Gly259Asp
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.151G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.478G>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8561
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49490
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly502Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-70965093-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965093
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965093
    reference: chr 6
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.775G>T
  hgvsp: ENSP00000359530.4:p.Gly259Cys
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.150G>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.596G>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.775G>T
  hgvsp: ENSP00000315252.7:p.Gly259Cys
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.477G>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1504G>T
  hgvsp: ENSP00000349790.6:p.Gly502Cys
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8561
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly502Cys
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-70965093-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965093
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965093
    reference: chr 6
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.775G>C
  hgvsp: ENSP00000315252.7:p.Gly259Arg
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.775G>C
  hgvsp: ENSP00000359530.4:p.Gly259Arg
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.596G>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1504G>C
  hgvsp: ENSP00000349790.6:p.Gly502Arg
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.477G>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.150G>C
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8561
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly502Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

6-70965096-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965096
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965096
    reference: chr 6
allele count: 9
allele frequency: 7.415830325802145e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.775-3C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.477-3C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.596-3C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1504-3C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.775-3C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.150-3C>T
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8559
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1504-3C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

6-70965099-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965099
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965099
    reference: chr 6
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.596-6A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.150-6A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.477-6A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1504-6A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.775-6A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.775-6A>G
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8551
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1504-6A>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

6-70965107-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965107
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965107
    reference: chr 6
allele count: 1539
allele frequency: 1.268587820238056e-2
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.477-14T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1504-14T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.775-14T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.150-14T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.775-14T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.596-14T>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 6.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 5.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 4.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 8.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 9.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 4.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 5.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 7.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 8.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 6.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 7.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 9.75e1
  variant carriers: 614
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 3.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 101
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

6-70965111-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965111
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965111
    reference: chr 6
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.596-18A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.150-18A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.775-18A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.477-18A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1504-18A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.775-18A>G
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49240
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-70965112-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965112
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965112
    reference: chr 6
allele count: 16
allele frequency: 1.318869728642553e-4
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.150-19A>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.775-19A>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.775-19A>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.477-19A>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1504-19A>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.596-19A>C
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49242
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-70965119-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965119
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965119
    reference: chr 6
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.477-26A>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.150-26A>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.596-26A>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.775-26A>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.775-26A>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1504-26A>T
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/6-70965125-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965125
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965125
    reference: chr 6
allele count: 97949
allele frequency: 8.08440218557586e-1
allele num: 121158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.775-32T>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.477-32T>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.596-32T>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.775-32T>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.150-32T>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1504-32T>G
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 5.75e1
  variant carriers: 5760
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 4.25e1
  variant carriers: 4166
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.25e1
  variant carriers: 718
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 9.25e1
  variant carriers: 1538
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 7.25e1
  variant carriers: 4092
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 8.75e1
  variant carriers: 1827
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 7.75e1
  variant carriers: 3129
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 9.75e1
  variant carriers: 7083
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 209
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 3.75e1
  variant carriers: 2902
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 6.25e1
  variant carriers: 5334
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 4.75e1
  variant carriers: 5117
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 2.75e1
  variant carriers: 1091
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.25e1
  variant carriers: 1905
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 484
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 6.75e1
  variant carriers: 4720
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 5.25e1
  variant carriers: 5520
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 8.25e1
  variant carriers: 2507
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 148
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 88
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 148
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.75e1
  variant carriers: 257
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.25e1
  variant carriers: 303
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.25e1
  variant carriers: 151
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.75e1
  variant carriers: 201
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 8
num of homozygotes: 39875
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

6-70965125-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965125
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965125
    reference: chr 6
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.150-32T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.775-32T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1504-32T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.596-32T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.477-32T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.775-32T>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56503
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

6-70965126-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965126
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965126
    reference: chr 6
allele count: 6
allele frequency: 4.958104021022361e-5
allele num: 121014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.150-33T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.775-33T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1504-33T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.596-33T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.477-33T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.775-33T>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12422
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21006
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4620
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

6-70965135-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965135
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965135
    reference: chr 6
allele count: 1
allele frequency: 8.27417299640901e-6
allele num: 120858
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1504-42A>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.596-42A>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.775-42A>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.775-42A>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.150-42A>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.477-42A>T
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20992
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11202
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

6-70965135-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965135
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965135
    reference: chr 6
allele count: 1
allele frequency: 8.27417299640901e-6
allele num: 120858
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.775-42A>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.477-42A>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1504-42A>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.150-42A>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.775-42A>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.596-42A>C
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11202
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

6-70965137-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965137
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965137
    reference: chr 6
allele count: 222
allele frequency: 1.837565804721385e-3
allele num: 120812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.150-44T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.596-44T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1504-44T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.477-44T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.775-44T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.775-44T>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6459
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 10712
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 4.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9129
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4548
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

6-70965138-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965138
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965138
    reference: chr 6
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.150-45A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.596-45A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.775-45A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.775-45A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.477-45A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1504-45A>G
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20938
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4152
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

6-70965145-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965145
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965145
    reference: chr 6
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1504-52T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.775-52T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.477-52T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.596-52T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.775-52T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.150-52T>C
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8250
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20935
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/6-70965145-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70965145
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70965145
    reference: chr 6
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.150-52T>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.596-52T>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1504-52T>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.775-52T>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.477-52T>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.775-52T>G
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20935
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/6-70966421-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966421
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966422
    reference: chr 6
allele count: 16220
allele frequency: 2.330995631179582e-1
allele num: 69584
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.595+49dupT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.774+49dupT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1503+49dupT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.774+49dupT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.149+49dupT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.476+49dupT
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 253
genotype depth: GenotypeDepth
  all individuals: 12405
  bin: 1.25e1
  variant carriers: 4653
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.75e1
  variant carriers: 185
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 211
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.25e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 2.75e1
  variant carriers: 1567
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 199
genotype depth: GenotypeDepth
  all individuals: 15273
  bin: 1.75e1
  variant carriers: 5288
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 7.5e0
  variant carriers: 1346
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 3.25e1
  variant carriers: 690
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 227
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 323
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 6.75e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 11310
  bin: 2.25e1
  variant carriers: 3470
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 2.75e1
  variant carriers: 722
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 3.25e1
  variant carriers: 697
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 8.75e1
  variant carriers: 520
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 594
genotype quality: GenotypeQuality
  all individuals: 18180
  bin: 2.5e0
  variant carriers: 560
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 4.75e1
  variant carriers: 724
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 506
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 5.75e1
  variant carriers: 634
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 2.25e1
  variant carriers: 668
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 4.25e1
  variant carriers: 719
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 1.75e1
  variant carriers: 596
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 7.5e0
  variant carriers: 570
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 6.75e1
  variant carriers: 618
num of homozygotes: 84
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/6-70966421-C-CAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966421
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966423
    reference: chr 6
allele count: 252
allele frequency: 3.621522189008968e-3
allele num: 69584
alternate allele: CAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.774+48_774+49dupTT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.774+48_774+49dupTT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.149+48_149+49dupTT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1503+48_1503+49dupTT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.476+48_476+49dupTT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.595+48_595+49dupTT
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 7.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15273
  bin: 1.75e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12405
  bin: 1.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11310
  bin: 2.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 4.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 18180
  bin: 2.5e0
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 1.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 5.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 3.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 2.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 5.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 3.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 7.5e0
  variant carriers: 28
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/6-70966421-C-CAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966421
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966424
    reference: chr 6
allele count: 3
allele frequency: 4.31133593929639e-5
allele num: 69584
alternate allele: CAAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.774+47_774+49dupTTT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.149+47_149+49dupTTT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1503+47_1503+49dupTTT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.774+47_774+49dupTTT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.595+47_595+49dupTTT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.476+47_476+49dupTTT
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11310
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12405
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15273
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12995
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

6-70966421-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966421
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966421
    reference: chr 6
allele count: 1
allele frequency: 1.437111979765463e-5
allele num: 69584
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1503+50G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.476+50G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.595+50G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.774+50G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.149+50G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.774+50G>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12995
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/6-70966421-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966421
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966420
    reference: chr 6
allele count: 16895
allele frequency: 2.42800068981375e-1
allele num: 69584
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.595+49delT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.476+49delT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.149+49delT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1503+49delT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.774+49delT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.774+49delT
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 438
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 250
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 7.5e0
  variant carriers: 579
genotype depth: GenotypeDepth
  all individuals: 11310
  bin: 2.25e1
  variant carriers: 4128
genotype depth: GenotypeDepth
  all individuals: 12405
  bin: 1.25e1
  variant carriers: 2794
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 360
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 496
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 406
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.75e1
  variant carriers: 194
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 402
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 2.75e1
  variant carriers: 2085
genotype depth: GenotypeDepth
  all individuals: 15273
  bin: 1.75e1
  variant carriers: 4597
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.25e1
  variant carriers: 432
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 479
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 358
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 3.25e1
  variant carriers: 871
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 6.75e1
  variant carriers: 477
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 7.25e1
  variant carriers: 644
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 583
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 7.5e0
  variant carriers: 582
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 4.75e1
  variant carriers: 1000
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 683
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 4.25e1
  variant carriers: 1073
genotype quality: GenotypeQuality
  all individuals: 12995
  bin: 9.75e1
  variant carriers: 5275
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 5.75e1
  variant carriers: 945
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 3.25e1
  variant carriers: 1058
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 8.75e1
  variant carriers: 430
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 1.75e1
  variant carriers: 764
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 8.25e1
  variant carriers: 470
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 2.25e1
  variant carriers: 966
num of homozygotes: 51
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: CA
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-70966421-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966421
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966419
    reference: chr 6
allele count: 168
allele frequency: 2.414348126005978e-3
allele num: 69584
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.149+48_149+49delTT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.476+48_476+49delTT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.774+48_774+49delTT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1503+48_1503+49delTT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.595+48_595+49delTT
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.774+48_774+49delTT
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 15273
  bin: 1.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12405
  bin: 1.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11310
  bin: 2.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 7.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 4.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 3.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 2.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 18180
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 3.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 1.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 8.25e1
  variant carriers: 11
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: CAA
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

6-70966422-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966422
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966422
    reference: chr 6
allele count: 2
allele frequency: 6.273525721455458e-4
allele num: 3188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.595+49T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.774+49T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1503+49T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.774+49T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.149+49T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.476+49T>C
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26683
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/6-70966433-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966433
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966434
    reference: chr 6
allele count: 1
allele frequency: 8.641249870381251e-6
allele num: 115724
alternate allele: AC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1503+37_1503+38insG
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.476+37_476+38insG
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.774+37_774+38insG
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.774+37_774+38insG
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.595+37_595+38insG
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.149+37_149+38insG
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3919
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7675
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

6-70966438-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966438
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966438
    reference: chr 6
allele count: 1
allele frequency: 8.614006374364718e-6
allele num: 116090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.774+33T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.595+33T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.149+33T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.476+33T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1503+33T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.774+33T>C
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7705
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

6-70966441-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966441
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966441
    reference: chr 6
allele count: 1
allele frequency: 8.563403439062821e-6
allele num: 116776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.595+30T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.774+30T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.149+30T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.476+30T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1503+30T>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.774+30T>C
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14666
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7706
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

6-70966442-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966442
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966442
    reference: chr 6
allele count: 3
allele frequency: 2.564453258565274e-5
allele num: 116984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.476+29A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.149+29A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1503+29A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.774+29A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.774+29A>G
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.595+29A>G
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

6-70966493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966493
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966493
    reference: chr 6
allele count: 1
allele frequency: 8.330001332800213e-6
allele num: 120048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.752C>T
  hgvsp: ENSP00000359530.4:p.Pro251Leu
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.752C>T
  hgvsp: ENSP00000315252.7:p.Pro251Leu
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.573C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.454C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.127C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1481C>T
  hgvsp: ENSP00000349790.6:p.Pro494Leu
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro494Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

6-70966495-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966495
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966495
    reference: chr 6
allele count: 1
allele frequency: 8.330556481172942e-6
allele num: 120040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.452G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1479G>A
  hgvsp: ENST00000357250.6:c.1479G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.125G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.571G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.750G>A
  hgvsp: ENST00000320755.7:c.750G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.750G>A
  hgvsp: ENST00000370499.4:c.750G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly493Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

6-70966498-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966498
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966498
    reference: chr 6
allele count: 2
allele frequency: 1.665972511453561e-5
allele num: 120050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.449T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.747T>A
  hgvsp: ENST00000320755.7:c.747T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.122T>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1476T>A
  hgvsp: ENST00000357250.6:c.1476T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.747T>A
  hgvsp: ENST00000370499.4:c.747T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.568T>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7717
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38874
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro492Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

6-70966509-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966509
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966509
    reference: chr 6
allele count: 44
allele frequency: 3.671868480347158e-4
allele num: 119830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.736G>C
  hgvsp: ENSP00000315252.7:p.Asp246His
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.111G>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.438G>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.736G>C
  hgvsp: ENSP00000359530.4:p.Asp246His
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.557G>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1465G>C
  hgvsp: ENSP00000349790.6:p.Asp489His
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17454
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24708
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7745
  bin: 9.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp489His
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

6-70966514-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966514
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966514
    reference: chr 6
allele count: 1
allele frequency: 8.357290900581667e-6
allele num: 119656
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.731G>C
  hgvsp: ENSP00000315252.7:p.Gly244Ala
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.731G>C
  hgvsp: ENSP00000359530.4:p.Gly244Ala
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.552G>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.106G>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1460G>C
  hgvsp: ENSP00000349790.6:p.Gly487Ala
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.433G>C
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17322
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly487Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

6-70966516-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966516
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966516
    reference: chr 6
allele count: 20
allele frequency: 1.671346436689397e-4
allele num: 119664
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1458G>C
  hgvsp: ENST00000357250.6:c.1458G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.729G>C
  hgvsp: ENST00000370499.4:c.729G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.431G>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.550G>C
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.729G>C
  hgvsp: ENST00000320755.7:c.729G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.104G>C
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24317
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17298
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 37268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7733
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg486Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

6-70966517-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966517
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966517
    reference: chr 6
allele count: 3
allele frequency: 2.508235372807384e-5
allele num: 119606
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.430G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1457G>A
  hgvsp: ENSP00000349790.6:p.Arg486Gln
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.549G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.728G>A
  hgvsp: ENSP00000315252.7:p.Arg243Gln
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.728G>A
  hgvsp: ENSP00000359530.4:p.Arg243Gln
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.103G>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17242
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7720
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Arg486Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

6-70966518-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966518
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966518
    reference: chr 6
allele count: 3
allele frequency: 2.50949425325816e-5
allele num: 119546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.727C>T
  hgvsp: ENSP00000315252.7:p.Arg243Trp
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.102C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.727C>T
  hgvsp: ENSP00000359530.4:p.Arg243Trp
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1456C>T
  hgvsp: ENSP00000349790.6:p.Arg486Trp
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.548C>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.429C>T
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24092
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7717
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg486Trp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

6-70966525-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966525
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966525
    reference: chr 6
allele count: 1
allele frequency: 8.380543729677181e-6
allele num: 119324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.542-1G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.721-1G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.721-1G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1450-1G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.423-1G>A
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.96-1G>A
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23432
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1450-1G>A
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/6-70966528-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70966528
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 70966528
    reference: chr 6
allele count: 1
allele frequency: 8.405056481979558e-6
allele num: 118976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000360859
  gene symbol: COL9A1
  hgvsc: ENST00000360859.6:n.96-4G>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000489611
  gene symbol: COL9A1
  hgvsc: ENST00000489611.1:n.542-4G>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000349790
  ensembl transcript: ENST00000357250
  gene symbol: COL9A1
  hgvsc: ENST00000357250.6:c.1450-4G>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000315252
  ensembl transcript: ENST00000320755
  gene symbol: COL9A1
  hgvsc: ENST00000320755.7:c.721-4G>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl protein: ENSP00000359530
  ensembl transcript: ENST00000370499
  gene symbol: COL9A1
  hgvsc: ENST00000370499.4:c.721-4G>T
  variant of: http://identifiers.org/hgnc/2217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112280
  ensembl transcript: ENST00000493682
  gene symbol: COL9A1
  hgvsc: ENST00000493682.2:n.423-4G>T
  variant of: http://identifiers.org/hgnc/2217
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1450-4G>T
num of homozygotes: 0
reference allele: C

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

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

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 137
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

VQSLOD
type: SiteQuality
SIO_000300: -3.441e-1

DP
type: SiteQuality
SIO_000300: 7.217384e6

FS
type: SiteQuality
SIO_000300: 9.298e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.022e0

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

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

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

GenotypeQuality
all individuals: 137
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

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

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

Latino
type: Population
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 (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.528e0

FS
type: SiteQuality
SIO_000300: 8.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.325e1

DP
type: SiteQuality
SIO_000300: 7.217231e6

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

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

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59436
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 129
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

VQSLOD
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SIO_000300: 1.54e0

QD
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MQRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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SIO_000300: -2.5e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 9.88e-1

BaseQRankSum
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SIO_000300: 5.05e0

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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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 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 frequency: 0.0e0
allele num: 908
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: 10406
num of homozygotes: 0

Latino
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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: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 7.217304e6

MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.983e1

BaseQRankSum
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SIO_000300: 3.46e0

InbreedingCoeff
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SIO_000300: 0.0e0

FS
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ReadPosRankSum
type: SiteQuality
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QD
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VQSLOD
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ClippingRankSum
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SIO_000300: -1.19e-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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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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ClippingRankSum
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.7e0

MQ
type: SiteQuality
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FS
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InbreedingCoeff
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SIO_000300: 0.0e0

QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

MQRankSum
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DP
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QD
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ClippingRankSum
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SIO_000300: -5.48e-1

InbreedingCoeff
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 17

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 908
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

Latino
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allele count: 12
allele frequency: 1.036448436690275e-3
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495055439017081e-5
allele num: 66740
num of homozygotes: 0

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

East Asian
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allele num: 8654
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.38e-1

ReadPosRankSum
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FS
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
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South Asian
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allele num: 16512
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Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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African
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East Asian
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MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
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DP
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SIO_000300: 7.21673e6

InbreedingCoeff
type: SiteQuality
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VQSLOD
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QD
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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FS
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ClippingRankSum
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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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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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South Asian
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European (Non-Finnish)
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allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

East Asian
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African
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Latino
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QD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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BaseQRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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Latino
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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FS
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QD
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ClippingRankSum
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MQ
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InbreedingCoeff
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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South Asian
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BaseQRankSum
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DP
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VQSLOD
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MQ
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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Other
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allele num: 908
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Latino
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South Asian
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allele num: 16512
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European (Non-Finnish)
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VQSLOD
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DP
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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MQ
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ClippingRankSum
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FS
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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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Latino
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South Asian
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African
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Other
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European (Finnish)
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East Asian
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European (Non-Finnish)
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.923e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.335e0

MQRankSum
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.261e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.09e-1

DP
type: SiteQuality
SIO_000300: 7.214482e6

GenotypeQuality
all individuals: 178
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 123
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59433
bin: 9.75e1
variant carriers: 5

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

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

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: 66738
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.804920238324044e-4
allele num: 10406
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.58e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-1

DP
type: SiteQuality
SIO_000300: 7.214435e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.985e0

MQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.388e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59434
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 7.214044e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.102e0

FS
type: SiteQuality
SIO_000300: 1.914e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

QD
type: SiteQuality
SIO_000300: 1.272e1

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

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

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59436
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 126
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 4
allele frequency: 3.454828122300915e-4
allele num: 11578
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.148e0

DP
type: SiteQuality
SIO_000300: 7.214104e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

QD
type: SiteQuality
SIO_000300: 1.557e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.26e0

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59434
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 7.213956e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.676e0

QD
type: SiteQuality
SIO_000300: 1.34e1

FS
type: SiteQuality
SIO_000300: 3.537e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 182
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 173
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59435
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.176e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 1.14e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e0

VQSLOD
type: SiteQuality
SIO_000300: -7.442e-1

FS
type: SiteQuality
SIO_000300: 1.471e0

DP
type: SiteQuality
SIO_000300: 7.213946e6

MQ
type: SiteQuality
SIO_000300: 5.874e1

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59440
bin: 9.75e1
variant carriers: 414

GenotypeQuality
all individuals: 190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.419110976716057e-3
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.39736290080911e-4
allele num: 66740
num of homozygotes: 0

East Asian
type: Population
allele count: 379
allele frequency: 4.38150289017341e-2
allele num: 8650
num of homozygotes: 10

South Asian
type: Population
allele count: 8
allele frequency: 4.844961240310077e-4
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.92e-2

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.14e-1

DP
type: SiteQuality
SIO_000300: 7.215028e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.74e0

VQSLOD
type: SiteQuality
SIO_000300: 6.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

QD
type: SiteQuality
SIO_000300: 1.361e1

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 180
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 7.215102e6

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 5.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.92e-1

QD
type: SiteQuality
SIO_000300: 1.561e1

VQSLOD
type: SiteQuality
SIO_000300: 2.47e0

GenotypeQuality
all individuals: 250
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

Latino
type: Population
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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 7.215102e6

FS
type: SiteQuality
SIO_000300: 5.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.03e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.26e-1

QD
type: SiteQuality
SIO_000300: 1.561e1

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.92e-1

GenotypeQuality
all individuals: 175
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.561e1

VQSLOD
type: SiteQuality
SIO_000300: 2.47e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.26e-1

DP
type: SiteQuality
SIO_000300: 7.215102e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.03e-1

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 49548
bin: 9.75e1
variant carriers: 166

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 144
allele frequency: 2.157626610728199e-3
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.419110976716057e-3
allele num: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 4.1589e6

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.112e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.75e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

GenotypeQuality
all individuals: 734
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2724
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1013
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.804920238324044e-4
allele num: 10406
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 1.35e1

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

DP
type: SiteQuality
SIO_000300: 4.14702e6

FS
type: SiteQuality
SIO_000300: 1.174e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.228e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

GenotypeQuality
all individuals: 735
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 10
allele frequency: 6.056201550387597e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

DP
type: SiteQuality
SIO_000300: 4.146838e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

FS
type: SiteQuality
SIO_000300: 1.127e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.938e0

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.275e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

QD
type: SiteQuality
SIO_000300: 1.355e1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e-1

DP
type: SiteQuality
SIO_000300: 4.146385e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 2.454e0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.05e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: 5.93e-1

DP
type: SiteQuality
SIO_000300: 4.146279e6

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

FS
type: SiteQuality
SIO_000300: 2.797e0

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1009
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GenotypeQuality
all individuals: 49515
bin: 9.75e1
variant carriers: 21

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

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

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.547350755214577e-4
allele num: 66736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

FS
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.337e1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 4.146711e6

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 49510
bin: 9.75e1
variant carriers: 33

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 4.645029818094639e-4
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.4e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

DP
type: SiteQuality
SIO_000300: 4.145302e6

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

FS
type: SiteQuality
SIO_000300: 5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -9.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.383e0

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.71e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 4.142263e6

BaseQRankSum
type: SiteQuality
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GenotypeQuality
all individuals: 4
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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
all individuals: 49502
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variant carriers: 1

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.129e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.56e-1

FS
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.76e-1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
all individuals: 729
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GenotypeQuality
all individuals: 2
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variant carriers: 0

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 4.142058e6

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.38e-1

FS
type: SiteQuality
SIO_000300: 6.772e0

QD
type: SiteQuality
SIO_000300: 1.161e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.718e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.766e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.45e0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1009
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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: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2751
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
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: 10406
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.169e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.141728e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.78e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.152e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 2100
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GenotypeQuality
all individuals: 49499
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variant carriers: 3

GenotypeQuality
all individuals: 2742
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GenotypeQuality
all individuals: 1476
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.359e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

FS
type: SiteQuality
SIO_000300: 6.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.1e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 4.141379e6

GenotypeQuality
all individuals: 1416
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2100
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.463e0

MQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

FS
type: SiteQuality
SIO_000300: 1.5025e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: -1.227e0

QD
type: SiteQuality
SIO_000300: 1.383e1

DP
type: SiteQuality
SIO_000300: 4.139133e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.94e-1

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2100
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1667
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49490
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 710
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1443
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
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

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

DP
type: SiteQuality
SIO_000300: 4.138847e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.284e0

QD
type: SiteQuality
SIO_000300: 1.008e1

FS
type: SiteQuality
SIO_000300: 3.62e0

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

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

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

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2100
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1443
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49490
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.008e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

FS
type: SiteQuality
SIO_000300: 3.62e0

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

DP
type: SiteQuality
SIO_000300: 4.138847e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.284e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

GenotypeQuality
all individuals: 1437
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2099
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1668
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49487
bin: 9.75e1
variant carriers: 9

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 66702
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

FS
type: SiteQuality
SIO_000300: 7.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 4.137403e6

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.378e0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49483
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1414
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.621e1

DP
type: SiteQuality
SIO_000300: 4.135705e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.44e-1

FS
type: SiteQuality
SIO_000300: 3.253e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.19e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 122
bin: 3.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2345
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 49563
bin: 9.75e1
variant carriers: 1429

South Asian
type: Population
allele count: 7
allele frequency: 4.239854633555421e-4
allele num: 16510
num of homozygotes: 0

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

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

African
type: Population
allele count: 1400
allele frequency: 1.34667179684494e-1
allele num: 10396
num of homozygotes: 101

Other
type: Population
allele count: 7
allele frequency: 7.709251101321586e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 35
allele frequency: 5.248950209958009e-4
allele num: 66680
num of homozygotes: 0

Latino
type: Population
allele count: 90
allele frequency: 7.780082987551867e-3
allele num: 11568
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.119e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

FS
type: SiteQuality
SIO_000300: 7.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e0

QD
type: SiteQuality
SIO_000300: 1.499e1

DP
type: SiteQuality
SIO_000300: 4.129224e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeQuality
all individuals: 710
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2370
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1706
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

QD
type: SiteQuality
SIO_000300: 1.204e1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.539e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 4.089014e6

FS
type: SiteQuality
SIO_000300: 2.492e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.194e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.399592069348211e-4
allele num: 66678
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

DP
type: SiteQuality
SIO_000300: 4.088518e6

QD
type: SiteQuality
SIO_000300: 1.538e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

FS
type: SiteQuality
SIO_000300: 7.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

GenotypeQuality
all individuals: 49234
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 692
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1695
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 4.434e0

DP
type: SiteQuality
SIO_000300: 4.083521e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.475e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.001e0

QD
type: SiteQuality
SIO_000300: 6.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.058e0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 12

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 24

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 9

GenotypeQuality
all individuals: 501
bin: 6.75e1
variant carriers: 221

GenotypeQuality
all individuals: 56503
bin: 9.75e1
variant carriers: 55719

GenotypeQuality
all individuals: 914
bin: 6.25e1
variant carriers: 217

GenotypeQuality
all individuals: 545
bin: 9.25e1
variant carriers: 439

African
type: Population
allele count: 10018
allele frequency: 9.647534668721109e-1
allele num: 10384
num of homozygotes: 4830

South Asian
type: Population
allele count: 12447
allele frequency: 7.543636363636363e-1
allele num: 16500
num of homozygotes: 4728

Latino
type: Population
allele count: 10235
allele frequency: 8.855338293822461e-1
allele num: 11558
num of homozygotes: 4563

Other
type: Population
allele count: 697
allele frequency: 7.676211453744494e-1
allele num: 908
num of homozygotes: 268

East Asian
type: Population
allele count: 7970
allele frequency: 9.233086190917517e-1
allele num: 8632
num of homozygotes: 3681

European (Finnish)
type: Population
allele count: 4964
allele frequency: 7.516656571774682e-1
allele num: 6604
num of homozygotes: 1861

European (Non-Finnish)
type: Population
allele count: 51618
allele frequency: 7.753710268581385e-1
allele num: 66572
num of homozygotes: 19944

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-2

DP
type: SiteQuality
SIO_000300: 3.935657e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

VQSLOD
type: SiteQuality
SIO_000300: 5.29e0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

QD
type: SiteQuality
SIO_000300: 3.219e1

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 5.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

QD
type: SiteQuality
SIO_000300: 3.219e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 3.935657e6

GenotypeQuality
all individuals: 299
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 750
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13718
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6902
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2043
bin: 8.75e1
variant carriers: 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: 8616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.016590526568887e-5
allele num: 66544
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.99e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.906e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

FS
type: SiteQuality
SIO_000300: 1.578e0

QD
type: SiteQuality
SIO_000300: 1.381e1

DP
type: SiteQuality
SIO_000300: 2.642814e6

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3515
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4179
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6477
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.737098344693281e-5
allele num: 10270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.541e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

DP
type: SiteQuality
SIO_000300: 2.604126e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.814e0

QD
type: SiteQuality
SIO_000300: 1.626e1

MQ
type: SiteQuality
SIO_000300: 5.824e1

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

GenotypeQuality
all individuals: 4179
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20992
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6477
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: -1.814e0

MQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

FS
type: SiteQuality
SIO_000300: 3.541e0

DP
type: SiteQuality
SIO_000300: 2.604126e6

MQ
type: SiteQuality
SIO_000300: 5.824e1

QD
type: SiteQuality
SIO_000300: 1.626e1

GenotypeQuality
all individuals: 1352
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3503
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6384
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21084
bin: 9.75e1
variant carriers: 221

GenotypeQuality
all individuals: 726
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 46
allele frequency: 2.789907811741873e-3
allele num: 16488
num of homozygotes: 1

African
type: Population
allele count: 1
allele frequency: 9.742790335151988e-5
allele num: 10264
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 8.674531575294934e-4
allele num: 11528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.060927553804183e-3
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 157
allele frequency: 2.363034316676701e-3
allele num: 66440
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.93e0

DP
type: SiteQuality
SIO_000300: 2.594531e6

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

QD
type: SiteQuality
SIO_000300: 1.47e1

GenotypeQuality
all individuals: 8623
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4494
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2495
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507068149621726e-5
allele num: 66354
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.944e-1

DP
type: SiteQuality
SIO_000300: 2.575672e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e0

QD
type: SiteQuality
SIO_000300: 1.677e1

GenotypeQuality
all individuals: 780
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4442
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4402
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3326
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.876e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 1.787e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

DP
type: SiteQuality
SIO_000300: 2.555655e6

GenotypeQuality
all individuals: 1428
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4127
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3507
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4442
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3326
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513271390091099e-5
allele num: 66082
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.876e-1

DP
type: SiteQuality
SIO_000300: 2.555655e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.787e1

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
all individuals: 936
bin: 9.25e1
variant carriers: 525

GenotypeQuality
all individuals: 1297
bin: 7.25e1
variant carriers: 615

GenotypeQuality
all individuals: 12995
bin: 9.75e1
variant carriers: 7780

GenotypeQuality
all individuals: 2024
bin: 3.75e1
variant carriers: 719

GenotypeQuality
all individuals: 974
bin: 8.25e1
variant carriers: 485

GenotypeQuality
all individuals: 1818
bin: 5.25e1
variant carriers: 711

GenotypeQuality
all individuals: 1209
bin: 7.75e1
variant carriers: 575

African
type: Population
allele count: 820
allele frequency: 1.340745585349902e-1
allele num: 6116
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 1048
allele frequency: 2.924107142857143e-1
allele num: 3584
num of homozygotes: 8

European (Non-Finnish)
type: Population
allele count: 11313
allele frequency: 2.906283717823563e-1
allele num: 38926
num of homozygotes: 68

East Asian
type: Population
allele count: 405
allele frequency: 1.053590010405827e-1
allele num: 3844
num of homozygotes: 0

Latino
type: Population
allele count: 1043
allele frequency: 1.777436946148603e-1
allele num: 5868
num of homozygotes: 3

South Asian
type: Population
allele count: 1471
allele frequency: 1.367863120699275e-1
allele num: 10754
num of homozygotes: 2

Other
type: Population
allele count: 120
allele frequency: 2.439024390243902e-1
allele num: 492
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

QD
type: SiteQuality
SIO_000300: 4.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.524e-1

DP
type: SiteQuality
SIO_000300: 1.485248e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e-1

GenotypeQuality
all individuals: 2059
bin: 2.75e1
variant carriers: 40

GenotypeQuality
all individuals: 12995
bin: 9.75e1
variant carriers: 40

GenotypeQuality
all individuals: 955
bin: 8.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1396
bin: 6.75e1
variant carriers: 14

GenotypeQuality
all individuals: 1921
bin: 4.25e1
variant carriers: 19

GenotypeQuality
all individuals: 1209
bin: 7.75e1
variant carriers: 8

GenotypeQuality
all individuals: 936
bin: 9.25e1
variant carriers: 8

East Asian
type: Population
allele count: 2
allele frequency: 5.202913631633715e-4
allele num: 3844
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 9.810333551340746e-4
allele num: 6116
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 1.36332651670075e-3
allele num: 5868
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 1.022875209224475e-3
allele num: 10754
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 1.016260162601626e-2
allele num: 492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 2.511160714285714e-3
allele num: 3584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 211
allele frequency: 5.420541540358629e-3
allele num: 38926
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.3e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.524e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

DP
type: SiteQuality
SIO_000300: 1.485248e6

GenotypeQuality
all individuals: 974
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2059
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1818
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2092
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.706931100035965e-5
allele num: 38926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3584
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.524e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e-1

DP
type: SiteQuality
SIO_000300: 1.485248e6

QD
type: SiteQuality
SIO_000300: 4.3e0

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

GenotypeQuality
all individuals: 1943
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1921
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1818
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1841
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38926
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.601456815816858e-4
allele num: 3844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10754
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.485248e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.524e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

QD
type: SiteQuality
SIO_000300: 4.3e0

GenotypeQuality
all individuals: 2059
bin: 2.75e1
variant carriers: 974

GenotypeQuality
all individuals: 1396
bin: 6.75e1
variant carriers: 715

GenotypeQuality
all individuals: 1818
bin: 5.25e1
variant carriers: 1044

GenotypeQuality
all individuals: 18180
bin: 2.5e0
variant carriers: 565

GenotypeQuality
all individuals: 936
bin: 9.25e1
variant carriers: 395

GenotypeQuality
all individuals: 1209
bin: 7.75e1
variant carriers: 611

GenotypeQuality
all individuals: 2024
bin: 3.75e1
variant carriers: 1083

East Asian
type: Population
allele count: 1349
allele frequency: 3.509365244536941e-1
allele num: 3844
num of homozygotes: 0

Other
type: Population
allele count: 116
allele frequency: 2.357723577235772e-1
allele num: 492
num of homozygotes: 0

African
type: Population
allele count: 2180
allele frequency: 3.564421190320471e-1
allele num: 6116
num of homozygotes: 49

South Asian
type: Population
allele count: 3719
allele frequency: 3.458248093732564e-1
allele num: 10754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 532
allele frequency: 1.484375e-1
allele num: 3584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7248
allele frequency: 1.861994553768689e-1
allele num: 38926
num of homozygotes: 2

Latino
type: Population
allele count: 1751
allele frequency: 2.983980913428766e-1
allele num: 5868
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.524e-1

QD
type: SiteQuality
SIO_000300: 4.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

DP
type: SiteQuality
SIO_000300: 1.485248e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

GenotypeQuality
all individuals: 1841
bin: 4.75e1
variant carriers: 17

GenotypeQuality
all individuals: 1943
bin: 7.5e0
variant carriers: 38

GenotypeQuality
all individuals: 1625
bin: 5.75e1
variant carriers: 16

GenotypeQuality
all individuals: 1358
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1297
bin: 7.25e1
variant carriers: 8

GenotypeQuality
all individuals: 12995
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 1396
bin: 6.75e1
variant carriers: 11

South Asian
type: Population
allele count: 12
allele frequency: 1.115863864608518e-3
allele num: 10754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 83
allele frequency: 2.132250937676617e-3
allele num: 38926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 2.601456815816857e-3
allele num: 3844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 5.580357142857143e-4
allele num: 3584
num of homozygotes: 0

Latino
type: Population
allele count: 23
allele frequency: 3.919563735514656e-3
allele num: 5868
num of homozygotes: 0

African
type: Population
allele count: 38
allele frequency: 6.213211249182472e-3
allele num: 6116
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.524e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

DP
type: SiteQuality
SIO_000300: 1.485248e6

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

QD
type: SiteQuality
SIO_000300: 4.3e0

GenotypeQuality
all individuals: 10
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 6.369426751592357e-3
allele num: 314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.774e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.183e0

QD
type: SiteQuality
SIO_000300: 1.214e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

DP
type: SiteQuality
SIO_000300: 6.96433e5

GenotypeQuality
all individuals: 4454
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22052
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3761
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63772
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.252191334835963e-4
allele num: 7986
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.771401e6

FS
type: SiteQuality
SIO_000300: 1.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

MQ
type: SiteQuality
SIO_000300: 6.204e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

QD
type: SiteQuality
SIO_000300: 9.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 589
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2879
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27118
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56206067043644e-5
allele num: 64018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -8.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

VQSLOD
type: SiteQuality
SIO_000300: -5.928e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

DP
type: SiteQuality
SIO_000300: 1.804269e6

QD
type: SiteQuality
SIO_000300: 1.744e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.561e0

GenotypeQuality
all individuals: 140
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5438
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1846
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.25e1
variant carriers: 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: 1
allele frequency: 1.55269859014968e-5
allele num: 64404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.995e1

FS
type: SiteQuality
SIO_000300: 3.534e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.184e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.71e-1

DP
type: SiteQuality
SIO_000300: 1.838745e6

QD
type: SiteQuality
SIO_000300: 1.35e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.04e-1

GenotypeQuality
all individuals: 1831
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5519
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7707
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.099333643266698e-5
allele num: 64530
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.009081735620585e-4
allele num: 9910
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15844
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

DP
type: SiteQuality
SIO_000300: 1.845575e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.717e0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.209e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5933
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variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
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variant carriers: 0

GenotypeQuality
all individuals: 7717
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 177
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66216
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.780907668231612e-5
allele num: 10224
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.388e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.614e0

DP
type: SiteQuality
SIO_000300: 1.927292e6

VQSLOD
type: SiteQuality
SIO_000300: -6.725e-1

QD
type: SiteQuality
SIO_000300: 1.076e1

MQ
type: SiteQuality
SIO_000300: 6.016e1

GenotypeQuality
all individuals: 219
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5919
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
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variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7716
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.184291898577613e-5
allele num: 16170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

MQ
type: SiteQuality
SIO_000300: 5.877e1

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.108e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.927248e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.183e1

VQSLOD
type: SiteQuality
SIO_000300: -1.045e-1

GenotypeQuality
all individuals: 5905
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1920
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020418025854778e-5
allele num: 66216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.054e-1

QD
type: SiteQuality
SIO_000300: 6.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

FS
type: SiteQuality
SIO_000300: 1.762e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

DP
type: SiteQuality
SIO_000300: 1.927787e6

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1302
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5791
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

South Asian
type: Population
allele count: 39
allele frequency: 2.41965504405013e-3
allele num: 16118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.536930615207792e-5
allele num: 66124
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.26e-1

QD
type: SiteQuality
SIO_000300: 1.059e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 1.922459e6

GenotypeQuality
all individuals: 1577
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5728
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7717
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1895
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36908
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.817396426467701e-5
allele num: 10186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66038
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.050000000000001e0

FS
type: SiteQuality
SIO_000300: 7.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.915338e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1893
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.174536058256989e-4
allele num: 8514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 1.118429228283833e-3
allele num: 16094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

DP
type: SiteQuality
SIO_000300: 1.915024e6

GenotypeQuality
all individuals: 315
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37049
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1889
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1924
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515013786625458e-5
allele num: 66006
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: 11374
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.243626414625047e-4
allele num: 16082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

QD
type: SiteQuality
SIO_000300: 7.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.45e-2

FS
type: SiteQuality
SIO_000300: 4.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.48e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 1.913497e6

GenotypeQuality
all individuals: 329
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.866600298656048e-4
allele num: 16072
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.53e0

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e-1

FS
type: SiteQuality
SIO_000300: 7.477e0

DP
type: SiteQuality
SIO_000300: 1.912262e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.088e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

GenotypeQuality
all individuals: 7715
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 599
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5637
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36208
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.852216748768474e-5
allele num: 10150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65858
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16034
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

DP
type: SiteQuality
SIO_000300: 1.904494e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 3.063e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.418e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

VQSLOD
type: SiteQuality
SIO_000300: 3.38e-1

QD
type: SiteQuality
SIO_000300: 1.349e1