http://identifiers.org/exac.variant/2-227966532-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966532
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966532
    reference: chr 2
allele count: 2
allele frequency: 5.704181164793794e-5
allele num: 35062
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.975+49G>T
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.975+49G>T
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13912
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7954
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11621
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 2.797985450475658e-4
  allele num: 3574
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

2-227966533-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966532
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 35186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.975+47delA
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.975+47delA
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22288
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6055
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12408
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 333
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1858
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: AT
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-227966539-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966539
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966539
    reference: chr 2
allele count: 1
allele frequency: 2.833182230281052e-5
allele num: 35296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.975+42A>C
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.975+42A>C
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22942
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genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
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genotype quality: GenotypeQuality
  all individuals: 2218
  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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1214
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genotype quality: GenotypeQuality
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16058
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

2-227966542-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966542
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966542
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 35490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.975+39A>G
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.975+39A>G
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 210
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  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: 7.5e0
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genotype depth: GenotypeDepth
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  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: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
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genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 2.5e0
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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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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: 1206
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  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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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3618
  num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

2-227966543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966543
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966543
    reference: chr 2
allele count: 1
allele frequency: 2.814839835613354e-5
allele num: 35526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.975+38C>T
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.975+38C>T
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23959
  bin: 7.5e0
  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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  bin: 8.25e1
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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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  bin: 4.25e1
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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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genotype quality: GenotypeQuality
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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: 1
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8968
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

2-227966547-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966547
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966547
    reference: chr 2
allele count: 1
allele frequency: 2.778240817914097e-5
allele num: 35994
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.975+34A>G
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.975+34A>G
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5524
  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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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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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9022
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-227966559-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966559
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966559
    reference: chr 2
allele count: 1
allele frequency: 2.663683341324383e-5
allele num: 37542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.975+22G>A
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.975+22G>A
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2160
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ

2-227966560-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966560
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966560
    reference: chr 2
allele count: 1
allele frequency: 2.636018557570645e-5
allele num: 37936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.975+21A>G
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.975+21A>G
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  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 quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 3.348961821835231e-4
  allele num: 2986
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

2-227966562-TATA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966562
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966559
    reference: chr 2
allele count: 3
allele frequency: 7.793827288787281e-5
allele num: 38492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.975+16_975+18delTAT
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.975+16_975+18delTAT
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  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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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3516
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2296
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: TATA
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

2-227966564-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966564
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966564
    reference: chr 2
allele count: 2
allele frequency: 5.09502216334641e-5
allele num: 39254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.975+17A>G
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.975+17A>G
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30067
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 333
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 154
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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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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  bin: 7.25e1
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 1.75e1
  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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  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 555
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 368
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-227966573-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966573
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966573
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 43396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.975+8T>C
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.975+8T>C
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30569
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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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  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
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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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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
hgvs: c.975+8T>C
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 402
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-227966584-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966584
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966584
    reference: chr 2
allele count: 2
allele frequency: 4.055972419387548e-5
allele num: 49310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.972A>C
  hgvsp: ENSP00000328553.7:p.Leu324Phe
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.972A>C
  hgvsp: ENSP00000379866.3:p.Leu324Phe
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
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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
  all individuals: 568
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hgvs: p.Leu324Phe
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2782
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

2-227966594-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966594
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966594
    reference: chr 2
allele count: 1
allele frequency: 1.826217173746302e-5
allele num: 54758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.962T>C
  hgvsp: ENSP00000328553.7:p.Phe321Ser
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.962T>C
  hgvsp: ENSP00000379866.3:p.Phe321Ser
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27899
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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
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3516
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe321Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5354
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-227966608-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966608
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966608
    reference: chr 2
allele count: 809
allele frequency: 1.352978559721711e-2
allele num: 59794
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.948T>C
  hgvsp: ENST00000329662.7:c.948T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.948T>C
  hgvsp: ENST00000396625.3:c.948T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26017
  bin: 7.5e0
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 2.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 14671
  bin: 2.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.75e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 2.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 1.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 3.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 9.75e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4136
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 8.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 15686
  bin: 6.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 6.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 4059
  bin: 9.75e1
  variant carriers: 695
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 5.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 26991
  bin: 2.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 7.75e1
  variant carriers: 9
hgvs: p.Tyr316Tyr
num of homozygotes: 38
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 9.305788200260562e-5
  allele num: 10746
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

2-227966609-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966609
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966609
    reference: chr 2
allele count: 1
allele frequency: 1.673920321392702e-5
allele num: 59740
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.947A>G
  hgvsp: ENSP00000379866.3:p.Tyr316Cys
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.947A>G
  hgvsp: ENSP00000328553.7:p.Tyr316Cys
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3503
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr316Cys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 3.618992472495657e-5
  allele num: 27632
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-227966623-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966623
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966623
    reference: chr 2
allele count: 1
allele frequency: 1.654642928056125e-5
allele num: 60436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.933G>A
  hgvsp: ENST00000329662.7:c.933G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.933G>A
  hgvsp: ENST00000396625.3:c.933G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4800
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27904
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 340
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genotype quality: GenotypeQuality
  all individuals: 796
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
hgvs: c.933G>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-227966626-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966626
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966626
    reference: chr 2
allele count: 1
allele frequency: 1.663838141825563e-5
allele num: 60102
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.931-1G>C
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.931-1G>C
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13118
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3503
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 9.25e1
  variant carriers: 0
hgvs: c.931-1G>C
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5838
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-227966635-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966635
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966635
    reference: chr 2
allele count: 1
allele frequency: 1.691646648847989e-5
allele num: 59114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.931-10A>C
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.931-10A>C
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10072
  bin: 1.25e1
  variant carriers: 0
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: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 837
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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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: 2.25e1
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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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  bin: 6.75e1
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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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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3503
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4846
  num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/2-227966638-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966638
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966639
    reference: chr 2
allele count: 4
allele frequency: 6.777133950052523e-5
allele num: 59022
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.931-14dupT
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.931-14dupT
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 2.25e1
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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: 1
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
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23978
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 9.75e1
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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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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4840
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-227966638-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966638
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966638
    reference: chr 2
allele count: 1
allele frequency: 1.694283487513131e-5
allele num: 59022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.931-13G>A
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.931-13G>A
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
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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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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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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  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
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 486
  num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

2-227966648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966648
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966648
    reference: chr 2
allele count: 1
allele frequency: 1.715089356155456e-5
allele num: 58306
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.931-23C>T
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.931-23C>T
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  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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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
  all individuals: 1105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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
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genotype quality: GenotypeQuality
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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
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5638
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-227966648-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966648
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966648
    reference: chr 2
allele count: 1
allele frequency: 1.715089356155456e-5
allele num: 58306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.931-23C>A
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.931-23C>A
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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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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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
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  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 3.689492325855962e-5
  allele num: 27104
  num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-227966650-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966650
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966650
    reference: chr 2
allele count: 1
allele frequency: 1.754509088357078e-5
allele num: 56996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.931-25A>T
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.931-25A>T
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4622
  num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

2-227966654-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966654
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966654
    reference: chr 2
allele count: 1
allele frequency: 1.748802070581652e-5
allele num: 57182
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.931-29G>A
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.931-29G>A
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8859
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3224
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

2-227966657-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966657
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966657
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 56580
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.931-32T>A
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.931-32T>A
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: East Asian
  type: Population
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  allele num: 4572
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
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2-227966660-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966660
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966660
    reference: chr 2
allele count: 1
allele frequency: 1.809758216302302e-5
allele num: 55256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.931-35A>T
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.931-35A>T
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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: 1.25e1
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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: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10464
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  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: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 2.241147467503362e-4
  allele num: 4462
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

2-227966670-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227966670
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227966670
    reference: chr 2
allele count: 1
allele frequency: 1.921377243207932e-5
allele num: 52046
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.931-45A>G
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.931-45A>G
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 2.25e1
  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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  variant carriers: 1
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: 1
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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  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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  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
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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
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genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2836
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
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  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 432
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

2-227967462-AAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967462
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967460
    reference: chr 2
allele count: 3
allele frequency: 2.484924789609701e-5
allele num: 120728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.930+41_930+42delAT
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.930+41_930+42delAT
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 6.75e1
  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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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: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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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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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
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1096
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2822
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genotype quality: GenotypeQuality
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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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  bin: 8.75e1
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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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  bin: 7.75e1
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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
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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: 31
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.496268097479092e-5
  allele num: 66722
  num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: AAT
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

2-227967463-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967463
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967463
    reference: chr 2
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.930+42T>C
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.930+42T>C
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 5.25e1
  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: 12
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6851
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 5.75e1
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1356
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genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3125
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498890820792613e-5
  allele num: 66716
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

2-227967466-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967466
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967466
    reference: chr 2
allele count: 15
allele frequency: 1.242441812308457e-4
allele num: 120730
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.930+39A>G
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.930+39A>G
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7024
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3001
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  variant carriers: 3
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1357
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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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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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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 15
  allele frequency: 9.084302325581395e-4
  allele num: 16512
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

2-227967494-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967494
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967494
    reference: chr 2
allele count: 24
allele frequency: 1.987445966312791e-4
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.930+11T>C
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.930+11T>C
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38431
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

2-227967506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967506
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967506
    reference: chr 2
allele count: 22
allele frequency: 1.821825469120058e-4
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.929G>A
  hgvsp: ENSP00000379866.3:p.Arg310Gln
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.929G>A
  hgvsp: ENSP00000328553.7:p.Arg310Gln
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3807
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38421
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg310Gln
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: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

2-227967507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967507
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967507
    reference: chr 2
allele count: 9
allele frequency: 7.453045811388254e-5
allele num: 120756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.928C>T
  hgvsp: ENSP00000328553.7:p.Arg310Trp
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.928C>T
  hgvsp: ENSP00000379866.3:p.Arg310Trp
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38416
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg310Trp
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-227967509-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967509
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967509
    reference: chr 2
allele count: 5
allele frequency: 4.140512429818314e-5
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.926C>A
  hgvsp: ENSP00000379866.3:p.Pro309His
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.926C>A
  hgvsp: ENSP00000328553.7:p.Pro309His
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4121
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38411
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Pro309His
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11576
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

2-227967530-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967530
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967530
    reference: chr 2
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.905G>C
  hgvsp: ENSP00000328553.7:p.Gly302Ala
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.905G>C
  hgvsp: ENSP00000379866.3:p.Gly302Ala
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38412
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly302Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498486528606108e-5
  allele num: 66734
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD

2-227967534-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967534
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967534
    reference: chr 2
allele count: 2
allele frequency: 1.656122685568547e-5
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.901A>G
  hgvsp: ENSP00000379866.3:p.Lys301Glu
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.901A>G
  hgvsp: ENSP00000328553.7:p.Lys301Glu
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38411
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys301Glu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8624
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

2-227967540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967540
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967540
    reference: chr 2
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.895G>A
  hgvsp: ENSP00000328553.7:p.Gly299Arg
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.895G>A
  hgvsp: ENSP00000379866.3:p.Gly299Arg
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 7.25e1
  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
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38409
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly299Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9802
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

2-227967541-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967541
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967541
    reference: chr 2
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.894A>G
  hgvsp: ENST00000329662.7:c.894A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.894A>G
  hgvsp: ENST00000396625.3:c.894A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38409
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 4128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys298Lys
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.020199959192002e-4
  allele num: 9802
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

2-227967547-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967547
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967547
    reference: chr 2
allele count: 5
allele frequency: 4.140375283615707e-5
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.888G>A
  hgvsp: ENST00000396625.3:c.888G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.888G>A
  hgvsp: ENST00000329662.7:c.888G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 5.75e1
  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 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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  bin: 4.25e1
  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: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3814
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38410
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly296Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-227967551-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967551
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967551
    reference: chr 2
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.884T>C
  hgvsp: ENSP00000379866.3:p.Ile295Thr
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.884T>C
  hgvsp: ENSP00000328553.7:p.Ile295Thr
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 5.75e1
  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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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 9.25e1
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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: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
  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: 3137
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 3816
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38410
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile295Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

2-227967565-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967565
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967565
    reference: chr 2
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.871-1G>C
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.871-1G>C
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
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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: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  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
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
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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: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 3809
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2432
  bin: 8.75e1
  variant carriers: 0
hgvs: c.871-1G>C
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498531439189594e-5
  allele num: 66732
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-227967570-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967570
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967570
    reference: chr 2
allele count: 2
allele frequency: 1.656836105772417e-5
allele num: 120712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.871-6T>C
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.871-6T>C
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
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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: 2
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: 1362
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genotype depth: GenotypeDepth
  all individuals: 2199
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14
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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
  all individuals: 2431
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genotype quality: GenotypeQuality
  all individuals: 18
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genotype quality: GenotypeQuality
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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: 15
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genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 6.25e1
  variant carriers: 0
hgvs: c.871-6T>C
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS

2-227967592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967592
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967592
    reference: chr 2
allele count: 1
allele frequency: 8.55431993156544e-6
allele num: 116900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.871-28C>T
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.871-28C>T
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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 depth: GenotypeDepth
  all individuals: 1943
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37333
  bin: 9.75e1
  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: 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: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6542
  num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-227967596-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967596
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967596
    reference: chr 2
allele count: 5
allele frequency: 4.698983140048494e-5
allele num: 106406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.871-32T>A
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.871-32T>A
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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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: 4.75e1
  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
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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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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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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: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 394
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genotype quality: GenotypeQuality
  all individuals: 517
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 35435
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 530
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genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 6.75e1
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7350
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-227967598-GCAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967598
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967595
    reference: chr 2
allele count: 1
allele frequency: 9.70817233947537e-6
allele num: 103006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.871-37_871-35delTTG
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.871-37_871-35delTTG
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 6.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11163
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
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genotype quality: GenotypeQuality
  all individuals: 7460
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1746
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  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8576
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GCAA
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-227967601-ACAATATTTCAGCAATAGGGAAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967601
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967578
    reference: chr 2
allele count: 65407
allele frequency: 6.073411703530374e-1
allele num: 107694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 7.75e1
  variant carriers: 2463
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 4.75e1
  variant carriers: 3780
genotype depth: GenotypeDepth
  all individuals: 1124
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  variant carriers: 844
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
  all individuals: 355
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genotype depth: GenotypeDepth
  all individuals: 9557
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  variant carriers: 4746
genotype depth: GenotypeDepth
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  variant carriers: 4087
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 2870
genotype depth: GenotypeDepth
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  variant carriers: 506
genotype depth: GenotypeDepth
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  variant carriers: 4386
genotype depth: GenotypeDepth
  all individuals: 53
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genotype depth: GenotypeDepth
  all individuals: 1884
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  variant carriers: 1390
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 4.25e1
  variant carriers: 3030
genotype quality: GenotypeQuality
  all individuals: 350
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genotype quality: GenotypeQuality
  all individuals: 429
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.75e1
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 484
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genotype quality: GenotypeQuality
  all individuals: 48726
  bin: 9.75e1
  variant carriers: 40905
num of homozygotes: 22875
population: European (Finnish)
  type: Population
  allele count: 4137
  allele frequency: 6.788644568427962e-1
  allele num: 6094
  num of homozygotes: 1499
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: ACAATATTTCAGCAATAGGGAAAG
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

2-227967605-TATTTCAGCAATAGGGAAAGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967605
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967585
    reference: chr 2
allele count: 1
allele frequency: 4.910626595953644e-5
allele num: 20364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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genotype depth: GenotypeDepth
  all individuals: 1185
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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
  all individuals: 1134
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genotype depth: GenotypeDepth
  all individuals: 462
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genotype quality: GenotypeQuality
  all individuals: 214
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6790
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7687
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 738
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: TATTTCAGCAATAGGGAAAGC
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD

2-227967610-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967610
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967610
    reference: chr 2
allele count: 1
allele frequency: 4.302925989672978e-5
allele num: 23240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.871-46G>A
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.871-46G>A
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  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
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  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: 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: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9530
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.75e1
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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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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 192
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genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 156
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

2-227967615-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967615
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967614
    reference: chr 2
allele count: 2
allele frequency: 7.157683773530885e-5
allele num: 27942
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.871-52delA
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.871-52delA
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 7.25e1
  variant carriers: 1
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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  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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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11322
  bin: 9.75e1
  variant carriers: 1
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: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13845
  bin: 2.5e0
  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
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2076
  num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: AT
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-227967813-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967813
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967813
    reference: chr 2
allele count: 1
allele frequency: 8.379701012267883e-6
allele num: 119336
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.870+47A>G
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.870+47A>G
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8065
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
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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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  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
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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
  all individuals: 361
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
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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: 351
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  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9730
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

2-227967815-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967815
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967815
    reference: chr 2
allele count: 1
allele frequency: 8.407317729351627e-6
allele num: 118944
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.870+45C>A
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.870+45C>A
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9500
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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
  all individuals: 7799
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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
  all individuals: 936
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65576
  num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/2-227967821-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967821
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967821
    reference: chr 2
allele count: 1
allele frequency: 8.767776667192733e-6
allele num: 114054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.870+39G>T
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.870+39G>T
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5076
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9260
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

2-227967830-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967830
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967830
    reference: chr 2
allele count: 2
allele frequency: 1.859600185960019e-5
allele num: 107550
alternate allele: A
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35190
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7766
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9034
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 59482
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6104
  num of homozygotes: 0
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-227967830-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967830
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967831
    reference: chr 2
allele count: 641
allele frequency: 5.96001859600186e-3
allele num: 107550
alternate allele: GA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.870+29dupT
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.870+29dupT
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 2.25e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 3.75e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 5.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 4.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 1.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7251
  bin: 4.25e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 5.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 3.25e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 2.75e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 6.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 2.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 5.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 1.25e1
  variant carriers: 88
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 5.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 2.5e0
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 6.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 2.25e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 7.5e0
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 1.75e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 4.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 9.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 6.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 35190
  bin: 9.75e1
  variant carriers: 183
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 3.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 8.25e1
  variant carriers: 8
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 75
  allele frequency: 7.467144563918757e-3
  allele num: 10044
  num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

2-227967830-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967830
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967829
    reference: chr 2
allele count: 72442
allele frequency: 6.735657833565784e-1
allele num: 107550
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.870+29delT
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.870+29delT
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 6.25e1
  variant carriers: 2464
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 493
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 5.25e1
  variant carriers: 4339
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 4.75e1
  variant carriers: 5613
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.75e1
  variant carriers: 790
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 3.75e1
  variant carriers: 7170
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 5.75e1
  variant carriers: 3267
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 1.75e1
  variant carriers: 1636
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 6.75e1
  variant carriers: 1648
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.25e1
  variant carriers: 305
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 3.25e1
  variant carriers: 7175
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.25e1
  variant carriers: 533
genotype depth: GenotypeDepth
  all individuals: 7251
  bin: 4.25e1
  variant carriers: 6590
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 1104
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 2.75e1
  variant carriers: 5944
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.75e1
  variant carriers: 408
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 1745
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 2.25e1
  variant carriers: 3806
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 6.75e1
  variant carriers: 1197
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 1.75e1
  variant carriers: 993
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 5.25e1
  variant carriers: 1080
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 6.25e1
  variant carriers: 1143
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 8.25e1
  variant carriers: 1045
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 1065
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 7.5e0
  variant carriers: 984
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 1056
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 2.25e1
  variant carriers: 1034
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 3.25e1
  variant carriers: 999
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 5.75e1
  variant carriers: 1098
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 1.25e1
  variant carriers: 971
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.75e1
  variant carriers: 1008
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 2.5e0
  variant carriers: 907
genotype quality: GenotypeQuality
  all individuals: 35190
  bin: 9.75e1
  variant carriers: 34997
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 2.75e1
  variant carriers: 1071
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.75e1
  variant carriers: 1211
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 9.25e1
  variant carriers: 1033
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 4.25e1
  variant carriers: 1089
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.25e1
  variant carriers: 1135
num of homozygotes: 21236
population: European (Non-Finnish)
  type: Population
  allele count: 40992
  allele frequency: 6.891496587202851e-1
  allele num: 59482
  num of homozygotes: 12382
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: GA
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

2-227967830-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967830
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967828
    reference: chr 2
allele count: 1034
allele frequency: 9.614132961413295e-3
allele num: 107550
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.870+28_870+29delTT
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.870+28_870+29delTT
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 6.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 1.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 266
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 180
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 2.75e1
  variant carriers: 297
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 6.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 3.75e1
  variant carriers: 227
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 4.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 7251
  bin: 4.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 5.25e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 2.5e0
  variant carriers: 227
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 93
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 6.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 2.75e1
  variant carriers: 108
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 1.25e1
  variant carriers: 168
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 2.25e1
  variant carriers: 142
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 1.75e1
  variant carriers: 148
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 4.25e1
  variant carriers: 81
genotype quality: GenotypeQuality
  all individuals: 35190
  bin: 9.75e1
  variant carriers: 259
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 7.5e0
  variant carriers: 210
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 5.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 5.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 9.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 8.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 3.25e1
  variant carriers: 107
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 6.25e1
  variant carriers: 29
num of homozygotes: 0
population: Other
  type: Population
  allele count: 6
  allele frequency: 7.263922518159807e-3
  allele num: 826
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: GAA
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

2-227967831-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967831
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967831
    reference: chr 2
allele count: 2
allele frequency: 1.138952164009112e-3
allele num: 1756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.870+29T>A
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.870+29T>A
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 235
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 419
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genotype depth: GenotypeDepth
  all individuals: 8
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genotype depth: GenotypeDepth
  all individuals: 57
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 21
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genotype depth: GenotypeDepth
  all individuals: 463
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 83
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 2.5e0
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 43
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 94
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-227967832-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967832
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967832
    reference: chr 2
allele count: 2
allele frequency: 3.213367609254498e-4
allele num: 6224
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.870+28T>G
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.870+28T>G
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
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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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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
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genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 177
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 19255
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 314
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

2-227967837-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967837
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967837
    reference: chr 2
allele count: 1
allele frequency: 8.292561572269675e-6
allele num: 120590
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.870+23T>C
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.870+23T>C
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
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genotype depth: GenotypeDepth
  all individuals: 1720
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genotype depth: GenotypeDepth
  all individuals: 7111
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 172
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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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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.50105073551486e-5
  allele num: 66620
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-227967838-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967838
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967838
    reference: chr 2
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.870+22T>G
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.870+22T>G
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
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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 quality: GenotypeQuality
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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: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8565
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11602
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4683
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.500960614793468e-5
  allele num: 66624
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

2-227967840-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967840
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967838
    reference: chr 2
allele count: 2
allele frequency: 1.658677370664632e-5
allele num: 120578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.870+18_870+19delCT
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.870+18_870+19delCT
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 4370
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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: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
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: 537
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  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
  all individuals: 208
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11601
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 10
  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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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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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16492
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: AAG
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

2-227967841-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967841
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967840
    reference: chr 2
allele count: 1
allele frequency: 8.303716743614441e-6
allele num: 120428
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.870+18delC
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.870+18delC
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
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genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19449
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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: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1158
  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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genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11529
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 33
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 24
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9774
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: AG
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

2-227967842-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967842
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967842
    reference: chr 2
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.870+18C>T
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.870+18C>T
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
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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: 1715
  bin: 5.25e1
  variant carriers: 1
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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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
  all individuals: 140
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 171
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  variant carriers: 0
genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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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: 175
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8598
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-227967842-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967842
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967842
    reference: chr 2
allele count: 6
allele frequency: 4.97801377250477e-5
allele num: 120530
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.870+18C>G
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.870+18C>G
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 2
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
  all individuals: 1867
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6608
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-227967844-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967844
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967844
    reference: chr 2
allele count: 1
allele frequency: 8.310479514667997e-6
allele num: 120330
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.870+16A>G
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.870+16A>G
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
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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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4330
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 22634
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9772
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

2-227967847-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967847
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967847
    reference: chr 2
allele count: 12
allele frequency: 9.950248756218905e-5
allele num: 120600
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.870+13A>T
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.870+13A>T
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13800
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.25e1
  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
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10834
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4473
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
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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
  all individuals: 3450
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 4
  allele frequency: 6.003301815998799e-5
  allele num: 66630
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

2-227967847-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967847
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967847
    reference: chr 2
allele count: 1
allele frequency: 8.291873963515755e-6
allele num: 120600
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.870+13A>G
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.870+13A>G
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3450
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 24555
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  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9794
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-227967856-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967856
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967856
    reference: chr 2
allele count: 3
allele frequency: 2.486984779653149e-5
allele num: 120628
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.870+4G>A
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.870+4G>A
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
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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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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
  all individuals: 314
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 25046
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  variant carriers: 0
hgvs: c.870+4G>A
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66642
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-227967864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967864
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967864
    reference: chr 2
allele count: 12
allele frequency: 9.947444335759405e-5
allele num: 120634
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.866G>A
  hgvsp: ENSP00000379866.3:p.Arg289His
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.866G>A
  hgvsp: ENSP00000328553.7:p.Arg289His
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 13827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10828
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 25197
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg289His
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8614
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

2-227967865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967865
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967865
    reference: chr 2
allele count: 7
allele frequency: 5.802579661129348e-5
allele num: 120636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.865C>T
  hgvsp: ENSP00000328553.7:p.Arg289Cys
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.865C>T
  hgvsp: ENSP00000379866.3:p.Arg289Cys
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
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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
  all individuals: 4098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10822
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8655
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 89
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genotype quality: GenotypeQuality
  all individuals: 3425
  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
  all individuals: 45
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg289Cys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.06060606060606e-5
  allele num: 16500
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

2-227967869-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967869
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967869
    reference: chr 2
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.861A>G
  hgvsp: ENST00000329662.7:c.861A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.861A>G
  hgvsp: ENST00000396625.3:c.861A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8657
  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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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1787
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3438
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro287Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9796
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

2-227967870-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967870
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967870
    reference: chr 2
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.860C>G
  hgvsp: ENSP00000328553.7:p.Pro287Arg
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.860C>G
  hgvsp: ENSP00000379866.3:p.Pro287Arg
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13837
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
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genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 4.75e1
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
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genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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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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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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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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genotype quality: GenotypeQuality
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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: 1788
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4471
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro287Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9796
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-227967872-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967872
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967872
    reference: chr 2
allele count: 2
allele frequency: 1.657687525901368e-5
allele num: 120650
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.858A>G
  hgvsp: ENST00000329662.7:c.858A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.858A>G
  hgvsp: ENST00000396625.3:c.858A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  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
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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: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 10814
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
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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: 4.75e1
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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: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8656
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro286Pro
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-227967878-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967878
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967878
    reference: chr 2
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.852A>G
  hgvsp: ENST00000396625.3:c.852A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.852A>G
  hgvsp: ENST00000329662.7:c.852A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1157
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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: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 622
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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
  all individuals: 500
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genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 25312
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  variant carriers: 0
hgvs: p.Pro284Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.059871530723549e-5
  allele num: 16502
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

2-227967884-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967884
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967884
    reference: chr 2
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.846A>G
  hgvsp: ENST00000396625.3:c.846A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.846A>G
  hgvsp: ENST00000329662.7:c.846A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
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genotype depth: GenotypeDepth
  all individuals: 1547
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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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  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
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  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
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly282Gly
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-227967902-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967902
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967902
    reference: chr 2
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.828A>G
  hgvsp: ENST00000329662.7:c.828A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.828A>G
  hgvsp: ENST00000396625.3:c.828A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly276Gly
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16490
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

2-227967903-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227967903
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 227967903
    reference: chr 2
allele count: 2
allele frequency: 1.658677370664632e-5
allele num: 120578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000328553
  ensembl transcript: ENST00000329662
  gene symbol: COL4A4
  hgvsc: ENST00000329662.7:c.827G>C
  hgvsp: ENSP00000328553.7:p.Gly276Ala
  variant of: http://identifiers.org/hgnc/2206
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081052
  ensembl protein: ENSP00000379866
  ensembl transcript: ENST00000396625
  gene symbol: COL4A4
  hgvsc: ENST00000396625.3:c.827G>C
  hgvsp: ENSP00000379866.3:p.Gly276Ala
  variant of: http://identifiers.org/hgnc/2206
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 3.75e1
  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
  all individuals: 1546
  bin: 5.25e1
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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: 3.25e1
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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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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: 6129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4466
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10808
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8600
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly276Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9788
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum

2-227967910-T-C
type: Variant
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: C
canonical: true
consequence: missense
filter: PASS
hgvs: p.Ile274Val
num of homozygotes: 0
reference allele: T

East Asian
type: Population
allele count: 1
allele frequency: 5.446623093681918e-4
allele num: 1836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2546
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.791e0

DP
type: SiteQuality
SIO_000300: 7.88571e5

FS
type: SiteQuality
SIO_000300: 3.867e0

VQSLOD
type: SiteQuality
SIO_000300: -6.912e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.04e-2

QD
type: SiteQuality
SIO_000300: 7.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8958
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16034
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.517e0

QD
type: SiteQuality
SIO_000300: 1.092e1

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

FS
type: SiteQuality
SIO_000300: 4.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-2

DP
type: SiteQuality
SIO_000300: 7.9016e5

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.324813631522897e-4
allele num: 1878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2606
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 6.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

VQSLOD
type: SiteQuality
SIO_000300: -1.235e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.88e-2

DP
type: SiteQuality
SIO_000300: 8.01902e5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1892
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16140
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.505e1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.71e-2

DP
type: SiteQuality
SIO_000300: 8.10097e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16138
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 5.263157894736842e-4
allele num: 1900
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.904e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: -1.134e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

QD
type: SiteQuality
SIO_000300: 1.469e1

DP
type: SiteQuality
SIO_000300: 8.13922e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.76e-2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3656
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.107252298263534e-4
allele num: 1958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2712
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.57e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.866e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.155e0

DP
type: SiteQuality
SIO_000300: 8.24676e5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.837711617046118e-5
allele num: 17130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2938
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9128
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.298e0

QD
type: SiteQuality
SIO_000300: 7.94e0

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 8.66978e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.08e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.404e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2062
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17336
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.298999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.71468e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

QD
type: SiteQuality
SIO_000300: 1.716e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3900
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.26726203441516e-4
allele num: 9182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.92e-2

MQ
type: SiteQuality
SIO_000300: 5.888e1

FS
type: SiteQuality
SIO_000300: 5.541e0

DP
type: SiteQuality
SIO_000300: 8.80901e5

QD
type: SiteQuality
SIO_000300: 1.486e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.114827201783724e-4
allele num: 17940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3974
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9234
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.81e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.92201e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 3.203e0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.111e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2938
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.328e-1

DP
type: SiteQuality
SIO_000300: 9.37459e5

MQRankSum
type: SiteQuality
SIO_000300: -1.159e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3740
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.01328769881216e-4
allele num: 9934
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.098e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 9.93763e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25278
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.715854495538778e-4
allele num: 5828
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4412
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.156e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.292e1

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.041526e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

MQ
type: SiteQuality
SIO_000300: 5.833e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.58e-1

Latino
type: Population
allele count: 44
allele frequency: 6.680838141512299e-3
allele num: 6586
num of homozygotes: 0

African
type: Population
allele count: 748
allele frequency: 1.223021582733813e-1
allele num: 6116
num of homozygotes: 38

East Asian
type: Population
allele count: 1
allele frequency: 2.018570851836899e-4
allele num: 4954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 4.720406681190995e-4
allele num: 27540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3358
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 4.048582995951417e-3
allele num: 494
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.304e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.41e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.54e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 1.086997e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3360
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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South Asian
type: Population
allele count: 0
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Other
type: Population
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allele num: 496
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MQRankSum
type: SiteQuality
SIO_000300: -1.134e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
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SIO_000300: -1.98e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQ
type: SiteQuality
SIO_000300: 5.805e1

DP
type: SiteQuality
SIO_000300: 1.079943e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

Latino
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allele frequency: 0.0e0
allele num: 6650
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European (Finnish)
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allele frequency: 0.0e0
allele num: 3436
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South Asian
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Other
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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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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 28062
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.31e-1

DP
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SIO_000300: 1.064632e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.55e-1

QD
type: SiteQuality
SIO_000300: 1.013e1

East Asian
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allele frequency: 0.0e0
allele num: 4958
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European (Non-Finnish)
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allele frequency: 3.575003575003575e-5
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South Asian
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Other
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allele num: 488
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3422
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Latino
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.115e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

African
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Other
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allele num: 484
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3352
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6428
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European (Non-Finnish)
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allele count: 1
allele frequency: 3.643252696006995e-5
allele num: 27448
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South Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e0

VQSLOD
type: SiteQuality
SIO_000300: -3.374e0

DP
type: SiteQuality
SIO_000300: 1.010562e6

Latino
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allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 1.45964092833163e-4
allele num: 27404
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South Asian
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allele num: 10806
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3334
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African
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Other
type: Population
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allele frequency: 0.0e0
allele num: 486
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VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

FS
type: SiteQuality
SIO_000300: 2.18e0

QD
type: SiteQuality
SIO_000300: 1.005e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

DP
type: SiteQuality
SIO_000300: 1.007145e6

African
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allele num: 5738
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3334
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European (Non-Finnish)
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allele frequency: 3.649102320829076e-5
allele num: 27404
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Latino
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num of homozygotes: 0

South Asian
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.007145e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

QD
type: SiteQuality
SIO_000300: 1.005e1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 27104
num of homozygotes: 0

South Asian
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allele frequency: 9.321401938851603e-5
allele num: 10728
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
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European (Finnish)
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allele frequency: 0.0e0
allele num: 3298
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VQSLOD
type: SiteQuality
SIO_000300: -3.012e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 8.449999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
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Other
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allele frequency: 0.0e0
allele num: 482
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10728
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3298
num of homozygotes: 0

African
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East Asian
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

QD
type: SiteQuality
SIO_000300: 8.449999999999999e0

African
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allele count: 0
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allele num: 5512
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 9.410878976096367e-5
allele num: 10626
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3220
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 26356
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

VQSLOD
type: SiteQuality
SIO_000300: -5.43e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26456
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 474
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.80635838150289e-4
allele num: 5536
num of homozygotes: 0

East Asian
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South Asian
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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ReadPosRankSum
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.81e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.423e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3214
num of homozygotes: 0

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

African
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Latino
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South Asian
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Other
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allele num: 474
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VQSLOD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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QD
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DP
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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European (Non-Finnish)
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African
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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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QD
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BaseQRankSum
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FS
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MQ
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DP
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.224043254202923e-5
allele num: 23674
num of homozygotes: 0

Latino
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African
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South Asian
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European (Finnish)
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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MQ
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InbreedingCoeff
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FS
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ClippingRankSum
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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East Asian
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num of homozygotes: 0

Other
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Latino
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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

South Asian
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African
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BaseQRankSum
type: SiteQuality
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MQRankSum
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DP
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

Latino
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num of homozygotes: 0

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

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

Other
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East Asian
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num of homozygotes: 0

VQSLOD
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MQ
type: SiteQuality
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ReadPosRankSum
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QD
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FS
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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African
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.068000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.97e0

MQ
type: SiteQuality
SIO_000300: 5.536e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 3.684679e6

FS
type: SiteQuality
SIO_000300: 1.129e0

QD
type: SiteQuality
SIO_000300: 1.429e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 1.453488372093023e-3
allele num: 16512
num of homozygotes: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.32e-2

QD
type: SiteQuality
SIO_000300: 1.347e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.631e-1

DP
type: SiteQuality
SIO_000300: 3.687094e6

FS
type: SiteQuality
SIO_000300: 6.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

MQ
type: SiteQuality
SIO_000300: 5.701e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.498531439189594e-4
allele num: 66732
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.275806077476224e-3
allele num: 8622
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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VQSLOD
type: SiteQuality
SIO_000300: -2.217e-1

DP
type: SiteQuality
SIO_000300: 3.688586e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.724e1

FS
type: SiteQuality
SIO_000300: 5.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.63e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
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European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.991188635137565e-5
allele num: 66732
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.194e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

MQ
type: SiteQuality
SIO_000300: 5.653e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.27e1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

DP
type: SiteQuality
SIO_000300: 3.688693e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.44e-1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.49265719594797e-5
allele num: 66732
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.927e1

MQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

DP
type: SiteQuality
SIO_000300: 3.68892e6

FS
type: SiteQuality
SIO_000300: 2.171e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.827e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.38e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.268e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.83e-1

MQ
type: SiteQuality
SIO_000300: 5.56e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.758e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

FS
type: SiteQuality
SIO_000300: 5.084e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 3.688914e6

MQRankSum
type: SiteQuality
SIO_000300: -1.008e0

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.317e0

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.972e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.689102e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.663e1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.164e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.314e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

DP
type: SiteQuality
SIO_000300: 3.689122e6

QD
type: SiteQuality
SIO_000300: 1.097e1

FS
type: SiteQuality
SIO_000300: 4.187e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

MQ
type: SiteQuality
SIO_000300: 5.755e1

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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MQ
type: SiteQuality
SIO_000300: 5.909e1

DP
type: SiteQuality
SIO_000300: 3.68919e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

QD
type: SiteQuality
SIO_000300: 1.401e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.82e-1

FS
type: SiteQuality
SIO_000300: 5.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

Latino
type: Population
allele count: 4
allele frequency: 3.455425017277125e-4
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

MQ
type: SiteQuality
SIO_000300: 5.731e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.26e0

FS
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: -1.829e0

QD
type: SiteQuality
SIO_000300: 7.9e0

DP
type: SiteQuality
SIO_000300: 3.68962e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
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allele num: 8626
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

DP
type: SiteQuality
SIO_000300: 3.689468e6

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.902e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

FS
type: SiteQuality
SIO_000300: 2.514e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.66e0

MQ
type: SiteQuality
SIO_000300: 5.8e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 900
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South Asian
type: Population
allele count: 0
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allele num: 16510
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QD
type: SiteQuality
SIO_000300: 2.274e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 4.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.505e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

DP
type: SiteQuality
SIO_000300: 3.690138e6

Latino
type: Population
allele count: 0
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allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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allele num: 8618
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Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.506e0

QD
type: SiteQuality
SIO_000300: 1.057e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.94e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.074e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e0

DP
type: SiteQuality
SIO_000300: 3.691615e6

FS
type: SiteQuality
SIO_000300: 2.642e0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.841732979664014e-5
allele num: 11310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64062
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.823e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.837e0

DP
type: SiteQuality
SIO_000300: 3.868867e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

MQ
type: SiteQuality
SIO_000300: 5.161e1

QD
type: SiteQuality
SIO_000300: 1.581e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.19693094629156e-4
allele num: 15640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.286e0

VQSLOD
type: SiteQuality
SIO_000300: -8.724e-1

DP
type: SiteQuality
SIO_000300: 4.219788e6

QD
type: SiteQuality
SIO_000300: 1.366e1

MQ
type: SiteQuality
SIO_000300: 5.223e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.96e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 6.513809275664408e-5
allele num: 15352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55050
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5936
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e-1

QD
type: SiteQuality
SIO_000300: 1.903e1

FS
type: SiteQuality
SIO_000300: 1.267e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

DP
type: SiteQuality
SIO_000300: 4.264035e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.8e1

African
type: Population
allele count: 4783
allele frequency: 5.450091157702825e-1
allele num: 8776
num of homozygotes: 1605

Latino
type: Population
allele count: 5189
allele frequency: 5.117357001972387e-1
allele num: 10140
num of homozygotes: 1561

Other
type: Population
allele count: 505
allele frequency: 6.296758104738155e-1
allele num: 802
num of homozygotes: 178

South Asian
type: Population
allele count: 8041
allele frequency: 5.31320206158319e-1
allele num: 15134
num of homozygotes: 2514

East Asian
type: Population
allele count: 4514
allele frequency: 5.944166447195154e-1
allele num: 7594
num of homozygotes: 1505

European (Non-Finnish)
type: Population
allele count: 38238
allele frequency: 6.464144436555431e-1
allele num: 59154
num of homozygotes: 14013

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.456e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: -3.864e0

QD
type: SiteQuality
SIO_000300: 3.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

FS
type: SiteQuality
SIO_000300: 1.003e0

MQ
type: SiteQuality
SIO_000300: 5.068e1

DP
type: SiteQuality
SIO_000300: 4.181306e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1408
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.698327037236913e-4
allele num: 3706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2260
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2708
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.419e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.879999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.119e-1

DP
type: SiteQuality
SIO_000300: 1.360119e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

FS
type: SiteQuality
SIO_000300: 3.449e0

QD
type: SiteQuality
SIO_000300: 2.54e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10792
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 966
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.289473684210526e-4
allele num: 3040
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.87e1

FS
type: SiteQuality
SIO_000300: 1.003e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.886e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.613e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.203e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.333e0

DP
type: SiteQuality
SIO_000300: 1.689341e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.515610791148833e-4
allele num: 13196
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 2.008933e6

FS
type: SiteQuality
SIO_000300: 1.003e0

MQRankSum
type: SiteQuality
SIO_000300: -1.356e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.42e-1

MQ
type: SiteQuality
SIO_000300: 4.4e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e-1

QD
type: SiteQuality
SIO_000300: 3.293e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518971959777622e-5
allele num: 65834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

FS
type: SiteQuality
SIO_000300: 1.547e0

MQRankSum
type: SiteQuality
SIO_000300: -7.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-2

QD
type: SiteQuality
SIO_000300: 1.63e1

DP
type: SiteQuality
SIO_000300: 2.182153e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.741258741258741e-5
allele num: 11440
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.008e0

MQRankSum
type: SiteQuality
SIO_000300: -1.916e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.123e0

DP
type: SiteQuality
SIO_000300: 2.190702e6

VQSLOD
type: SiteQuality
SIO_000300: -8.239e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.229e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607975558771507e-5
allele num: 62190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.87e-1

DP
type: SiteQuality
SIO_000300: 2.264561e6

MQ
type: SiteQuality
SIO_000300: 6.033e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.458e0

MQRankSum
type: SiteQuality
SIO_000300: -7.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.156e-1

QD
type: SiteQuality
SIO_000300: 1.09e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.399188470687001e-4
allele num: 14294
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.394e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

QD
type: SiteQuality
SIO_000300: 1.699e1

MQ
type: SiteQuality
SIO_000300: 6.017e1

DP
type: SiteQuality
SIO_000300: 2.70423e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

South Asian
type: Population
allele count: 173
allele frequency: 1.210298027144256e-2
allele num: 14294
num of homozygotes: 0

African
type: Population
allele count: 22
allele frequency: 2.435244631392517e-3
allele num: 9034
num of homozygotes: 0

East Asian
type: Population
allele count: 176
allele frequency: 2.26628895184136e-2
allele num: 7766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 180
allele frequency: 3.026125550586732e-3
allele num: 59482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.474442988204456e-3
allele num: 6104
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 7.263922518159807e-3
allele num: 826
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.394e-1

DP
type: SiteQuality
SIO_000300: 2.70423e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

MQ
type: SiteQuality
SIO_000300: 6.017e1

QD
type: SiteQuality
SIO_000300: 1.699e1

South Asian
type: Population
allele count: 8620
allele frequency: 6.030502308660977e-1
allele num: 14294
num of homozygotes: 2001

European (Finnish)
type: Population
allele count: 4330
allele frequency: 7.093709043250328e-1
allele num: 6104
num of homozygotes: 1420

Latino
type: Population
allele count: 6133
allele frequency: 6.106133014735166e-1
allele num: 10044
num of homozygotes: 1504

African
type: Population
allele count: 6738
allele frequency: 7.458490148328537e-1
allele num: 9034
num of homozygotes: 2339

East Asian
type: Population
allele count: 5071
allele frequency: 6.529745042492918e-1
allele num: 7766
num of homozygotes: 1424

Other
type: Population
allele count: 558
allele frequency: 6.755447941888619e-1
allele num: 826
num of homozygotes: 166

QD
type: SiteQuality
SIO_000300: 1.699e1

MQ
type: SiteQuality
SIO_000300: 6.017e1

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.394e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

DP
type: SiteQuality
SIO_000300: 2.70423e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

European (Finnish)
type: Population
allele count: 42
allele frequency: 6.880733944954129e-3
allele num: 6104
num of homozygotes: 0

East Asian
type: Population
allele count: 57
allele frequency: 7.339685809940768e-3
allele num: 7766
num of homozygotes: 0

African
type: Population
allele count: 86
allele frequency: 9.519592649988931e-3
allele num: 9034
num of homozygotes: 0

Latino
type: Population
allele count: 57
allele frequency: 5.675029868578256e-3
allele num: 10044
num of homozygotes: 0

South Asian
type: Population
allele count: 91
allele frequency: 6.366307541625857e-3
allele num: 14294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 695
allele frequency: 1.168420698698766e-2
allele num: 59482
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

QD
type: SiteQuality
SIO_000300: 1.699e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

DP
type: SiteQuality
SIO_000300: 2.70423e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.394e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

MQ
type: SiteQuality
SIO_000300: 6.017e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 944
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 9.09090909090909e-3
allele num: 220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.13e1

DP
type: SiteQuality
SIO_000300: 1.13313e5

MQ
type: SiteQuality
SIO_000300: 6.066e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

FS
type: SiteQuality
SIO_000300: 1.382e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.284e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.81e-2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.835269993164731e-4
allele num: 2926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.021e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.541e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

DP
type: SiteQuality
SIO_000300: 2.188058e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.83e-1

FS
type: SiteQuality
SIO_000300: 1.621e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.035e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.176301e6

MQ
type: SiteQuality
SIO_000300: 6.023e1

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

QD
type: SiteQuality
SIO_000300: 1.899e1

VQSLOD
type: SiteQuality
SIO_000300: -1.356e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.227e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.933e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

MQ
type: SiteQuality
SIO_000300: 6.063e1

QD
type: SiteQuality
SIO_000300: 7.3e0

FS
type: SiteQuality
SIO_000300: 5.996e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e0

DP
type: SiteQuality
SIO_000300: 2.176443e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
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European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

QD
type: SiteQuality
SIO_000300: 5.77e0

FS
type: SiteQuality
SIO_000300: 1.931e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: -5.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

DP
type: SiteQuality
SIO_000300: 2.177006e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503126503126503e-5
allele num: 66528
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 2.178475e6

FS
type: SiteQuality
SIO_000300: 5.797e0

MQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.454e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

QD
type: SiteQuality
SIO_000300: 6.18e0

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
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DP
type: SiteQuality
SIO_000300: 2.176244e6

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

QD
type: SiteQuality
SIO_000300: 9.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-2

FS
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.955e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

MQ
type: SiteQuality
SIO_000300: 5.996e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.193905817174516e-4
allele num: 11552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.955e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

DP
type: SiteQuality
SIO_000300: 2.176244e6

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-2

MQ
type: SiteQuality
SIO_000300: 5.996e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

QD
type: SiteQuality
SIO_000300: 9.07e0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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VQSLOD
type: SiteQuality
SIO_000300: 7.44e-1

DP
type: SiteQuality
SIO_000300: 2.180592e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.862e0

FS
type: SiteQuality
SIO_000300: 6.282e0

QD
type: SiteQuality
SIO_000300: 1.148e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.849660523763337e-4
allele num: 16496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.314e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

DP
type: SiteQuality
SIO_000300: 2.155262e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

MQ
type: SiteQuality
SIO_000300: 5.997e1

FS
type: SiteQuality
SIO_000300: 1.229e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.074e0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 900
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MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

FS
type: SiteQuality
SIO_000300: 1.229e0

DP
type: SiteQuality
SIO_000300: 2.155262e6

MQ
type: SiteQuality
SIO_000300: 5.997e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.074e0

QD
type: SiteQuality
SIO_000300: 1.314e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.482702577199907e-4
allele num: 8614
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QD
type: SiteQuality
SIO_000300: 1.057e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.03e-1

FS
type: SiteQuality
SIO_000300: 2.225e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.531e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.46e-1

DP
type: SiteQuality
SIO_000300: 2.157717e6

African
type: Population
allele count: 1
allele frequency: 1.02082482645978e-4
allele num: 9796
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.459010722933241e-4
allele num: 11564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.502325720973501e-5
allele num: 66646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
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VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.673e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.87e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-2

FS
type: SiteQuality
SIO_000300: 1.138e0

QD
type: SiteQuality
SIO_000300: 1.175e1

DP
type: SiteQuality
SIO_000300: 2.159155e6

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

African
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allele count: 5
allele frequency: 5.104124132298898e-4
allele num: 9796
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 900
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.28e-1

FS
type: SiteQuality
SIO_000300: 5.44e-1

DP
type: SiteQuality
SIO_000300: 2.158918e6

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

QD
type: SiteQuality
SIO_000300: 1.151e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.996e1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.158978e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.253e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.57e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 2.695e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 3.083e1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -6.06e-2

DP
type: SiteQuality
SIO_000300: 2.159135e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

QD
type: SiteQuality
SIO_000300: 1.56e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.07e0

FS
type: SiteQuality
SIO_000300: 7.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.888e0

MQ
type: SiteQuality
SIO_000300: 6.02e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00048007681229e-5
allele num: 66656
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.55e-1

MQ
type: SiteQuality
SIO_000300: 5.998e1

QD
type: SiteQuality
SIO_000300: 1.052e1

MQRankSum
type: SiteQuality
SIO_000300: -1.281e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.159074e6

FS
type: SiteQuality
SIO_000300: 2.464e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.202e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.997e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e0

QD
type: SiteQuality
SIO_000300: 1.132e1

VQSLOD
type: SiteQuality
SIO_000300: -2.307e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

DP
type: SiteQuality
SIO_000300: 2.159212e6

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.02082482645978e-4
allele num: 9796
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 3.535e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.158923e6

QD
type: SiteQuality
SIO_000300: 1.661e1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.02e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

DP
type: SiteQuality
SIO_000300: 2.157922e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.321801718133271e-4
allele num: 8614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.32e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.59e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 2.359e0

DP
type: SiteQuality
SIO_000300: 2.157185e6

MQRankSum
type: SiteQuality
SIO_000300: -1.366e0