http://identifiers.org/exac.variant/3-48613885-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613885
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613885
    reference: chr 3
allele count: 139
allele frequency: 1.217610679934827e-3
allele num: 114158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5641-17G>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1654-17G>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5737-17G>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 3.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 20068
  bin: 2.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30190
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 138
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

3-48613899-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613899
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613899
    reference: chr 3
allele count: 1
allele frequency: 8.974566079730045e-6
allele num: 111426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1654-31C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5737-31C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5641-31C>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15778
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 842
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 667
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

3-48613902-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613902
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613902
    reference: chr 3
allele count: 4
allele frequency: 3.608349721254984e-5
allele num: 110854
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1654-34G>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5641-34G>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5737-34G>C
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15522
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-48613907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613907
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613907
    reference: chr 3
allele count: 1
allele frequency: 9.123421648054886e-6
allele num: 109608
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5737-39C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5641-39C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1654-39C>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22148
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

3-48613909-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613909
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613909
    reference: chr 3
allele count: 1
allele frequency: 9.128918588304029e-6
allele num: 109542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1654-41G>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5737-41G>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5641-41G>C
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15694
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6312
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

3-48613912-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613912
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613912
    reference: chr 3
allele count: 1
allele frequency: 9.176669236134053e-6
allele num: 108972
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5640+43C>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5736+43C>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1653+43C>G
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15783
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6313
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3474
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23487
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-48613916-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613916
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613917
    reference: chr 3
allele count: 1
allele frequency: 9.242315015064973e-6
allele num: 108198
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5640+38dupG
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5736+38dupG
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1653+38dupG
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15878
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6311
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

3-48613917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613917
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613917
    reference: chr 3
allele count: 1
allele frequency: 9.264749481174029e-6
allele num: 107936
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5736+38G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5640+38G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1653+38G>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15860
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3066
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6310
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 11407
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

3-48613918-C-CCCCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613918
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613922
    reference: chr 3
allele count: 1
allele frequency: 9.291435155074053e-6
allele num: 107626
alternate allele: CCCCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1653+33_1653+36dupAGGG
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5640+33_5640+36dupAGGG
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5736+33_5736+36dupAGGG
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15754
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6311
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

3-48613923-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613923
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613923
    reference: chr 3
allele count: 1
allele frequency: 9.35506202406122e-6
allele num: 106894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1653+32G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5640+32G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5736+32G>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
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site quality: ClippingRankSum

3-48613928-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613928
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613928
    reference: chr 3
allele count: 36
allele frequency: 3.391171649805008e-4
allele num: 106158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5640+27G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1653+27G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5736+27G>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
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3-48613929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613929
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613929
    reference: chr 3
allele count: 37
allele frequency: 3.498420982961744e-4
allele num: 105762
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5736+26C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1653+26C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5640+26C>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-48613934-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613934
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613934
    reference: chr 3
allele count: 3
allele frequency: 2.853229856197215e-5
allele num: 105144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5640+21G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5736+21G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1653+21G>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5356
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6311
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

3-48613941-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613941
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613941
    reference: chr 3
allele count: 1
allele frequency: 9.622231202971345e-6
allele num: 103926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1653+14T>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5736+14T>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5640+14T>C
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10242
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1848
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

3-48613943-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613943
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613943
    reference: chr 3
allele count: 1
allele frequency: 9.659969088098919e-6
allele num: 103520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5640+12T>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5736+12T>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1653+12T>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6308
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

3-48613946-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613946
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613946
    reference: chr 3
allele count: 1
allele frequency: 9.731413001167769e-6
allele num: 102760
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5736+9G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5640+9G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1653+9G>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-48613947-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613947
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613947
    reference: chr 3
allele count: 2
allele frequency: 1.95537826792593e-5
allele num: 102282
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5736+8C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5640+8C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1653+8C>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
hgvs: c.5736+8C>T
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

3-48613956-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613956
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613956
    reference: chr 3
allele count: 1
allele frequency: 9.975460367495959e-6
allele num: 100246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5639A>G
  hgvsp: ENSP00000412569.1:p.Lys1880Arg
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1652A>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5735A>G
  hgvsp: ENSP00000332371.8:p.Lys1912Arg
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13246
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6306
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys1912Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

3-48613964-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613964
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613964
    reference: chr 3
allele count: 5
allele frequency: 5.097983237831114e-5
allele num: 98078
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5727G>A
  hgvsp: ENST00000328333.8:c.5727G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5631G>A
  hgvsp: ENST00000454817.1:c.5631G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1644G>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8133
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14963
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6309
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr1909Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

3-48613965-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613965
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613965
    reference: chr 3
allele count: 10
allele frequency: 1.023813911583431e-4
allele num: 97674
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5726C>T
  hgvsp: ENSP00000332371.8:p.Thr1909Met
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5630C>T
  hgvsp: ENSP00000412569.1:p.Thr1877Met
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1643C>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14447
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14585
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7967
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6313
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr1909Met
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

3-48613970-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613970
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613970
    reference: chr 3
allele count: 2
allele frequency: 2.065816927303902e-5
allele num: 96814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1638A>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5625A>T
  hgvsp: ENST00000454817.1:c.5625A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5721A>T
  hgvsp: ENST00000328333.8:c.5721A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3764
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly1907Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-48613971-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613971
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613971
    reference: chr 3
allele count: 2
allele frequency: 2.074602713580349e-5
allele num: 96404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5720G>A
  hgvsp: ENSP00000332371.8:p.Gly1907Glu
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1637G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5624G>A
  hgvsp: ENSP00000412569.1:p.Gly1875Glu
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6305
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly1907Glu
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

3-48613990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613990
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613990
    reference: chr 3
allele count: 2
allele frequency: 2.196016426202868e-5
allele num: 91074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1618G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605G>A
  hgvsp: ENSP00000412569.1:p.Gly1869Ser
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5701G>A
  hgvsp: ENSP00000332371.8:p.Gly1901Ser
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20063
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6302
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly1901Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

3-48613999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48613999
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48613999
    reference: chr 3
allele count: 2
allele frequency: 2.292158525683636e-5
allele num: 87254
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5701-9G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-9G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1618-9G>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
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: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

3-48614016-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614016
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614016
    reference: chr 3
allele count: 1
allele frequency: 1.222224938277641e-5
allele num: 81818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1618-26C>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-26C>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5701-26C>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6299
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-48614020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614020
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614020
    reference: chr 3
allele count: 1
allele frequency: 1.244245365186015e-5
allele num: 80370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1618-30G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-30G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5701-30G>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21721
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6300
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

3-48614022-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614022
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614022
    reference: chr 3
allele count: 2
allele frequency: 2.509158428263161e-5
allele num: 79708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1618-32T>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-32T>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5701-32T>C
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

3-48614028-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614028
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614028
    reference: chr 3
allele count: 1
allele frequency: 1.311578616022244e-5
allele num: 76244
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5701-38G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-38G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1618-38G>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5668
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
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  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3552
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6593
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

3-48614032-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614032
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614032
    reference: chr 3
allele count: 2
allele frequency: 2.643614349538689e-5
allele num: 75654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1618-42C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5701-42C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-42C>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20722
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6300
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

3-48614060-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614060
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614060
    reference: chr 3
allele count: 14
allele frequency: 2.061005770816158e-4
allele num: 67928
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-70T>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1617+49T>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5700+49T>C
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18370
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 2.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20327
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5470
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5770
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 609
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genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

3-48614061-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614061
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614061
    reference: chr 3
allele count: 1
allele frequency: 1.484119916889285e-5
allele num: 67380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-71A>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1617+48A>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5700+48A>G
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1005
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2094
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 574
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 139
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/3-48614067-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614067
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614067
    reference: chr 3
allele count: 2
allele frequency: 3.03278439935705e-5
allele num: 65946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1617+42G>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5700+42G>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-77G>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17701
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genotype depth: GenotypeDepth
  all individuals: 569
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20903
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 543
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum

3-48614074-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614074
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614074
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 66028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1617+35A>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5700+35A>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-84A>G
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

3-48614078-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614078
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614078
    reference: chr 3
allele count: 3
allele frequency: 4.53295457979511e-5
allele num: 66182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-88G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5700+31G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1617+31G>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5061
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22975
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5737
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5434
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5758
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-48614093-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614093
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614093
    reference: chr 3
allele count: 1
allele frequency: 1.472320376914016e-5
allele num: 67920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-103C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1617+16C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5700+16C>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24727
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4439
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 6236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 4841
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5755
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

3-48614109-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614109
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614109
    reference: chr 3
allele count: 1
allele frequency: 1.392951664577239e-5
allele num: 71790
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5700G>A
  hgvsp: ENST00000328333.8:c.5700G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-119G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1617G>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
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genotype quality: GenotypeQuality
  all individuals: 9685
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5761
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4347
  bin: 2.75e1
  variant carriers: 0
hgvs: c.5700G>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP

3-48614112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614112
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614112
    reference: chr 3
allele count: 1
allele frequency: 1.382819846230433e-5
allele num: 72316
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5697C>T
  hgvsp: ENST00000328333.8:c.5697C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1614C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-122C>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20900
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4409
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly1899Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

3-48614119-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614119
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614119
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 74490
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5690C>G
  hgvsp: ENSP00000332371.8:p.Pro1897Arg
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1607C>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-129C>G
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20270
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro1897Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

3-48614120-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614120
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614120
    reference: chr 3
allele count: 1
allele frequency: 1.340518512560658e-5
allele num: 74598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-130C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5689C>T
  hgvsp: ENSP00000332371.8:p.Pro1897Ser
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1606C>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4040
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro1897Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

3-48614126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614126
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614126
    reference: chr 3
allele count: 1
allele frequency: 1.304971943103223e-5
allele num: 76630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1600G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5683G>A
  hgvsp: ENSP00000332371.8:p.Val1895Met
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-136G>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12825
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1895Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

3-48614127-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614127
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614127
    reference: chr 3
allele count: 1
allele frequency: 1.298195508243542e-5
allele num: 77030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1599A>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5682A>G
  hgvsp: ENST00000328333.8:c.5682A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-137A>G
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 436
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro1894Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

3-48614134-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614134
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614134
    reference: chr 3
allele count: 1
allele frequency: 1.269132167423916e-5
allele num: 78794
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5675C>T
  hgvsp: ENSP00000332371.8:p.Pro1892Leu
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-144C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1592C>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro1892Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

3-48614134-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614134
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614134
    reference: chr 3
allele count: 1
allele frequency: 1.269132167423916e-5
allele num: 78794
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1592C>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-144C>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5675C>G
  hgvsp: ENSP00000332371.8:p.Pro1892Arg
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11851
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 3802
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3890
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1892Arg
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ

3-48614138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614138
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614138
    reference: chr 3
allele count: 1
allele frequency: 1.247754042723098e-5
allele num: 80144
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5671C>T
  hgvsp: ENSP00000332371.8:p.Leu1891Phe
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-148C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1588C>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu1891Phe
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum

3-48614148-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614148
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614148
    reference: chr 3
allele count: 2
allele frequency: 2.375409758183287e-5
allele num: 84196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5605-158G>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5661G>C
  hgvsp: ENST00000328333.8:c.5661G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1578G>C
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10654
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15594
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19683
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14877
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly1887Gly
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

3-48614155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614155
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614155
    reference: chr 3
allele count: 1
allele frequency: 1.142230547813771e-5
allele num: 87548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+162C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5654C>T
  hgvsp: ENSP00000332371.8:p.Pro1885Leu
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1571C>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3216
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5770
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro1885Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

3-48614158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614158
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614158
    reference: chr 3
allele count: 1
allele frequency: 1.127777151234916e-5
allele num: 88670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1568G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+159G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5651G>A
  hgvsp: ENSP00000332371.8:p.Gly1884Glu
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly1884Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

3-48614170-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614170
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614170
    reference: chr 3
allele count: 1
allele frequency: 1.069335728645365e-5
allele num: 93516
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5639C>A
  hgvsp: ENSP00000332371.8:p.Pro1880His
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1556C>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+147C>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro1880His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

3-48614180-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614180
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614180
    reference: chr 3
allele count: 2
allele frequency: 2.042692268409764e-5
allele num: 97910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1546C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5629C>T
  hgvsp: ENSP00000332371.8:p.Arg1877Cys
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+137C>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24141
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 487
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 544
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13046
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg1877Cys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-48614197-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614197
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614197
    reference: chr 3
allele count: 1
allele frequency: 9.502632229127468e-6
allele num: 105234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+120A>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5612A>T
  hgvsp: ENSP00000332371.8:p.Asp1871Val
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1529A>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 810
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5822
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp1871Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

3-48614198-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614198
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614198
    reference: chr 3
allele count: 3
allele frequency: 2.842901275515039e-5
allele num: 105526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1528G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5611G>A
  hgvsp: ENSP00000332371.8:p.Asp1871Asn
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+119G>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9272
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8783
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5824
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp1871Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

3-48614200-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614200
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614200
    reference: chr 3
allele count: 21
allele frequency: 1.976172999830614e-4
allele num: 106266
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5609G>A
  hgvsp: ENSP00000332371.8:p.Arg1870His
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+117G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1526G>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28499
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9591
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7072
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29127
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5856
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 4705
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1870His
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

3-48614201-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614201
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614201
    reference: chr 3
allele count: 23
allele frequency: 2.146964379060563e-4
allele num: 107128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1525C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5608C>T
  hgvsp: ENSP00000332371.8:p.Arg1870Cys
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+116C>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9793
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29065
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4909
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 5869
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7835
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
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genotype quality: GenotypeQuality
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg1870Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

3-48614218-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614218
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614218
    reference: chr 3
allele count: 5
allele frequency: 4.449190247374977e-5
allele num: 112380
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5605-14T>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1522-14T>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+99T>C
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30067
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5894
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4915
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
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genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

3-48614219-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614219
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614219
    reference: chr 3
allele count: 14
allele frequency: 1.244090569793481e-4
allele num: 112532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+98C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5605-15C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1522-15C>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

3-48614231-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614231
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614231
    reference: chr 3
allele count: 1
allele frequency: 8.651117724409994e-6
allele num: 115592
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5605-27T>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+86T>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1522-27T>C
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 33088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum

3-48614233-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614233
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614233
    reference: chr 3
allele count: 13
allele frequency: 1.121114905653869e-4
allele num: 115956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+84G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5605-29G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1522-29G>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30574
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 498
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-48614237-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614237
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614237
    reference: chr 3
allele count: 4
allele frequency: 3.425772083383293e-5
allele num: 116762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+80T>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5605-33T>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1522-33T>C
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 461
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

3-48614245-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614245
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614244
    reference: chr 3
allele count: 2
allele frequency: 1.691789744370569e-5
allele num: 118218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1522-42delT
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+71delT
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5605-42delT
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31066
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6053
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: GA
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD

3-48614250-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614250
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614250
    reference: chr 3
allele count: 1
allele frequency: 8.403643819960336e-6
allele num: 118996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1522-46C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+67C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5605-46C>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6071
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 714
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 179
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-48614256-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614256
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614256
    reference: chr 3
allele count: 1
allele frequency: 8.354637659364713e-6
allele num: 119694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+61T>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1522-52T>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5605-52T>G
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31333
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35134
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 111
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 777
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

3-48614271-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614271
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614271
    reference: chr 3
allele count: 3
allele frequency: 2.476514388548598e-5
allele num: 121138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+46C>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1521+46C>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5604+46C>G
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 42974
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genotype quality: GenotypeQuality
  all individuals: 3025
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

3-48614272-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614272
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614272
    reference: chr 3
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5604+45C>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1521+45C>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+45C>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-48614278-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614278
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614278
    reference: chr 3
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5604+39C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1521+39C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+39C>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42976
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

3-48614280-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614280
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614280
    reference: chr 3
allele count: 12
allele frequency: 9.905239871892231e-5
allele num: 121148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1521+37A>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+37A>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5604+37A>C
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1400
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42979
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-48614281-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614281
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614280
    reference: chr 3
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1521+35delT
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5604+35delT
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+35delT
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42977
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3020
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3883
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: CA
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

3-48614285-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614285
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614285
    reference: chr 3
allele count: 2
allele frequency: 1.650764303872693e-5
allele num: 121156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+32C>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5604+32C>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1521+32C>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 3910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-48614286-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614286
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614286
    reference: chr 3
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+31C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5604+31C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1521+31C>T
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42977
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

3-48614287-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614287
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614287
    reference: chr 3
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+30A>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5604+30A>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1521+30A>G
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3021
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genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1691
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2337
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

3-48614290-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614290
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614290
    reference: chr 3
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+27C>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1521+27C>G
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5604+27C>G
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2341
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3021
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genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

3-48614312-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614312
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614312
    reference: chr 3
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1521+5G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5604+5G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5604+5G>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 69
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2027
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
hgvs: c.5604+5G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

3-48614323-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614323
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614323
    reference: chr 3
allele count: 6
allele frequency: 4.951802456094018e-5
allele num: 121168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5598G>A
  hgvsp: ENST00000454817.1:c.5598G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1515G>A
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5598G>A
  hgvsp: ENST00000328333.8:c.5598G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42964
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly1866Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

3-48614325-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614325
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614325
    reference: chr 3
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5596G>C
  hgvsp: ENSP00000412569.1:p.Gly1866Arg
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1513G>C
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5596G>C
  hgvsp: ENSP00000332371.8:p.Gly1866Arg
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3943
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly1866Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

3-48614328-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614328
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614328
    reference: chr 3
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5593T>C
  hgvsp: ENSP00000332371.8:p.Ser1865Pro
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5593T>C
  hgvsp: ENSP00000412569.1:p.Ser1865Pro
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1510T>C
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42963
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser1865Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

3-48614331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614331
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614331
    reference: chr 3
allele count: 239
allele frequency: 1.972370310462641e-3
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5590G>A
  hgvsp: ENSP00000412569.1:p.Ala1864Thr
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5590G>A
  hgvsp: ENSP00000332371.8:p.Ala1864Thr
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1507G>A
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 9.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43023
  bin: 9.75e1
  variant carriers: 238
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala1864Thr
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

3-48614332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48614332
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48614332
    reference: chr 3
allele count: 4
allele frequency: 3.301201637396012e-5
allele num: 121168
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000332371
  ensembl transcript: ENST00000328333
  gene symbol: COL7A1
  hgvsc: ENST00000328333.8:c.5589C>T
  hgvsp: ENST00000328333.8:c.5589C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114270
  ensembl transcript: ENST00000487017
  gene symbol: COL7A1
  hgvsc: ENST00000487017.1:n.1506C>T
  variant of: http://identifiers.org/hgnc/2214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114270
  ensembl protein: ENSP00000412569
  ensembl transcript: ENST00000454817
  gene symbol: COL7A1
  hgvsc: ENST00000454817.1:c.5589C>T
  hgvsp: ENST00000454817.1:c.5589C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3959
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly1863Gly
num of homozygotes: 0
population: South Asian
reference allele: G

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 3.035434706201872e-4
allele num: 62594
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.024170421958214e-4
allele num: 9764
num of homozygotes: 0

East Asian
type: Population
allele count: 114
allele frequency: 1.39058306904123e-2
allele num: 8198
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.817190623296384e-4
allele num: 11006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.913265306122449e-4
allele num: 15680
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.425e0

QD
type: SiteQuality
SIO_000300: 1.218e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

DP
type: SiteQuality
SIO_000300: 1.784938e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.42e0

GenotypeQuality
all individuals: 2300
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61136
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.254390366281987e-4
allele num: 7972
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5896
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

DP
type: SiteQuality
SIO_000300: 1.703586e6

QD
type: SiteQuality
SIO_000300: 4.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.56e-1

FS
type: SiteQuality
SIO_000300: 4.415e0

VQSLOD
type: SiteQuality
SIO_000300: -2.084e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.433e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2373
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.580246101204185e-5
allele num: 60788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7942
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15366
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.069e0

DP
type: SiteQuality
SIO_000300: 1.689216e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

GenotypeQuality
all individuals: 389
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.500285008550257e-5
allele num: 10526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60128
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.211e0

FS
type: SiteQuality
SIO_000300: 1.922e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.267e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.193e1

DP
type: SiteQuality
SIO_000300: 1.657774e6

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.36e-1

GenotypeQuality
all individuals: 2522
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60092
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.279099513942185e-4
allele num: 7818
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9332
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.702e-1

DP
type: SiteQuality
SIO_000300: 1.654157e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.46e0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 1.259e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.09e-1

GenotypeQuality
all individuals: 10775
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.672352665730149e-5
allele num: 59796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5742
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7752
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 1.64622e6

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

FS
type: SiteQuality
SIO_000300: 1.808e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
all individuals: 844
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9208
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.763046544428773e-4
allele num: 5672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7716
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.96e0

DP
type: SiteQuality
SIO_000300: 1.632055e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.444e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.09e1

QD
type: SiteQuality
SIO_000300: 9.31e0

GenotypeQuality
all individuals: 242
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.298026998961578e-4
allele num: 7704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59228
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5650
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.342e0

MQRankSum
type: SiteQuality
SIO_000300: -6.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

FS
type: SiteQuality
SIO_000300: 3.051e0

DP
type: SiteQuality
SIO_000300: 1.628613e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.817e0

QD
type: SiteQuality
SIO_000300: 1.343e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQ
type: SiteQuality
SIO_000300: 5.82e1

GenotypeQuality
all individuals: 1403
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59082
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.65335994677312e-5
allele num: 15030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.75e-1

DP
type: SiteQuality
SIO_000300: 1.619043e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.263e0

MQRankSum
type: SiteQuality
SIO_000300: -2.423e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

MQ
type: SiteQuality
SIO_000300: 4.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.826e1

GenotypeQuality
all individuals: 2914
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5580
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.800078400627205e-5
allele num: 10204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14964
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

QD
type: SiteQuality
SIO_000300: 1.116e1

DP
type: SiteQuality
SIO_000300: 1.608984e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

FS
type: SiteQuality
SIO_000300: 1.431e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.029406718594517e-4
allele num: 58286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

African
type: Population
allele count: 29
allele frequency: 3.215790640940342e-3
allele num: 9018
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.877518767285657e-5
allele num: 10124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7544
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

DP
type: SiteQuality
SIO_000300: 1.600452e6

MQRankSum
type: SiteQuality
SIO_000300: -1.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.222e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

GenotypeQuality
all individuals: 6342
bin: 9.75e1
variant carriers: 35

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14860
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Other
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Latino
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allele count: 14
allele frequency: 1.3891645167692e-3
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European (Non-Finnish)
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allele frequency: 3.098106712564544e-4
allele num: 58100
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European (Finnish)
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allele frequency: 1.818843215714805e-4
allele num: 5498
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African
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allele frequency: 2.232641214556821e-4
allele num: 8958
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MQ
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QD
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MQRankSum
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FS
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DP
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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East Asian
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European (Finnish)
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allele frequency: 3.676470588235294e-4
allele num: 5440
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African
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European (Non-Finnish)
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allele frequency: 1.731721677691961e-5
allele num: 57746
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Other
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South Asian
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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ClippingRankSum
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QD
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MQ
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GenotypeQuality
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variant carriers: 1

African
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European (Non-Finnish)
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allele frequency: 1.751804358489244e-5
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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VQSLOD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 9782
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East Asian
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African
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.804572672836147e-5
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European (Non-Finnish)
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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QD
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MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 1.560611e6

GenotypeQuality
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variant carriers: 0

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

Latino
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.770287494689137e-5
allele num: 56488
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South Asian
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InbreedingCoeff
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FS
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BaseQRankSum
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MQ
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QD
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MQRankSum
type: SiteQuality
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DP
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VQSLOD
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 728
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5234
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Latino
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allele count: 1
allele frequency: 1.038421599169263e-4
allele num: 9630
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South Asian
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East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.778157117962943e-5
allele num: 56238
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FS
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VQSLOD
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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MQ
type: SiteQuality
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 1.181753722524226e-4
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Latino
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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MQ
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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VQSLOD
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 3.707411114818522e-5
allele num: 53946
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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South Asian
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allele frequency: 2.097022228435621e-4
allele num: 14306
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Other
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African
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BaseQRankSum
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VQSLOD
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DP
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ClippingRankSum
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FS
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ReadPosRankSum
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MQRankSum
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QD
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InbreedingCoeff
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MQ
type: SiteQuality
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GenotypeQuality
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Latino
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Other
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African
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European (Finnish)
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allele frequency: 2.035830618892508e-4
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East Asian
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European (Non-Finnish)
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allele num: 53716
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South Asian
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DP
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ReadPosRankSum
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ClippingRankSum
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FS
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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BaseQRankSum
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.877722697911972e-5
allele num: 53256
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Other
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South Asian
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East Asian
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Latino
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African
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European (Finnish)
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DP
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ClippingRankSum
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QD
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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Other
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.885582833653882e-5
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African
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Latino
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MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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BaseQRankSum
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QD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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Other
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European (Non-Finnish)
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South Asian
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East Asian
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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FS
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DP
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MQ
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GenotypeQuality
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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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Other
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South Asian
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BaseQRankSum
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FS
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ClippingRankSum
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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African
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Latino
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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DP
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QD
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BaseQRankSum
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MQ
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.462843768285547e-4
allele num: 6836
num of homozygotes: 0

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

BaseQRankSum
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DP
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QD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 4.533502584096473e-5
allele num: 44116
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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DP
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FS
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QD
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 12420
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 3692
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 2.104377104377104e-4
allele num: 4752
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Latino
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allele frequency: 0.0e0
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African
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MQRankSum
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FS
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ReadPosRankSum
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QD
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.778059152372306e-5
allele num: 41858
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 frequency: 0.0e0
allele num: 3656
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South Asian
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allele frequency: 0.0e0
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VQSLOD
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FS
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DP
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MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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GenotypeQuality
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bin: 2.25e1
variant carriers: 1

South Asian
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allele frequency: 0.0e0
allele num: 11992
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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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
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.738717085937083e-4
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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QD
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DP
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BaseQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 4598
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 2928
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.694691457828079e-5
allele num: 37110
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 4446
num of homozygotes: 0

African
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allele frequency: 3.63901018922853e-4
allele num: 5496
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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: 2804
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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InbreedingCoeff
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QD
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FS
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DP
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 11868
num of homozygotes: 0

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

ReadPosRankSum
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InbreedingCoeff
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DP
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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QD
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 8.228195282501371e-5
allele num: 36460
num of homozygotes: 0

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

South Asian
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allele frequency: 8.296001327360213e-5
allele num: 12054
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Other
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East Asian
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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ReadPosRankSum
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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MQ
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

African
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East Asian
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Latino
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
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MQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.557392600623391e-4
allele num: 59032
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 2.651816494298595e-4
allele num: 7542
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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MQRankSum
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DP
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BaseQRankSum
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QD
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 10598
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 8.101889360598892e-5
allele num: 61714
num of homozygotes: 1

European (Finnish)
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allele frequency: 0.0e0
allele num: 6002
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.658201e6

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 9
allele frequency: 1.456546366726007e-4
allele num: 61790
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East Asian
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allele frequency: 0.0e0
allele num: 7856
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6022
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African
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allele frequency: 0.0e0
allele num: 9490
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Other
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South Asian
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allele frequency: 3.138337936228973e-4
allele num: 15932
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Latino
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allele frequency: 0.0e0
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QD
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InbreedingCoeff
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DP
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MQ
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.576690211907164e-5
allele num: 63424
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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QD
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MQ
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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South Asian
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East Asian
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allele frequency: 1.612903225806452e-3
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African
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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DP
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FS
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MQ
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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Other
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African
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allele frequency: 4.019292604501608e-4
allele num: 9952
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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InbreedingCoeff
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MQ
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ClippingRankSum
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QD
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DP
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

East Asian
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South Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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European (Non-Finnish)
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allele frequency: 3.084801184563655e-5
allele num: 64834
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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MQ
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VQSLOD
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DP
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FS
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QD
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele num: 6530
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South Asian
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Other
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East Asian
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

African
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allele num: 10270
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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BaseQRankSum
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DP
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FS
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MQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 4.510057428064584e-5
allele num: 66518
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East Asian
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European (Finnish)
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African
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Latino
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Other
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South Asian
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQ
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DP
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QD
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MQRankSum
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FS
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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Other
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South Asian
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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DP
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QD
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BaseQRankSum
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GenotypeQuality
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European (Finnish)
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African
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Latino
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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InbreedingCoeff
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QD
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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MQ
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GenotypeQuality
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African
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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QD
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InbreedingCoeff
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FS
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VQSLOD
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DP
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MQ
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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East Asian
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South Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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FS
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DP
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QD
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.032e1

GenotypeQuality
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Other
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South Asian
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African
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQ
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MQRankSum
type: SiteQuality
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DP
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QD
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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bin: 6.75e1
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South Asian
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num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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Other
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African
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South Asian
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQ
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BaseQRankSum
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QD
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ReadPosRankSum
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

GenotypeQuality
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variant carriers: 0

Latino
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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MQRankSum
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VQSLOD
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MQ
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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FS
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DP
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ClippingRankSum
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QD
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66558
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Latino
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Other
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ClippingRankSum
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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BaseQRankSum
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VQSLOD
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 9.017674642298906e-5
allele num: 66536
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East Asian
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allele frequency: 0.0e0
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Latino
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South Asian
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Other
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African
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European (Finnish)
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MQ
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FS
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ReadPosRankSum
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QD
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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DP
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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Other
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Latino
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South Asian
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East Asian
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ReadPosRankSum
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MQ
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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Latino
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allele frequency: 9.504060825989287e-4
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South Asian
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African
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East Asian
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Other
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European (Non-Finnish)
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allele frequency: 1.202284340246468e-4
allele num: 66540
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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South Asian
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