1-216390710-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390710
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390710
    reference: chr 1
allele count: 1
allele frequency: 8.418358756776778e-6
allele num: 118788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3157+19A>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3157+19A>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3157+19A>C
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 20173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6755
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6772
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-216390716-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390716
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390716
    reference: chr 1
allele count: 1
allele frequency: 8.406186953597848e-6
allele num: 118960
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3157+13T>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3157+13T>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3157+13T>C
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6767
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

1-216390717-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390717
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390717
    reference: chr 1
allele count: 25
allele frequency: 2.101900117706407e-4
allele num: 118940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3157+12C>T
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3157+12C>T
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3157+12C>T
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20618
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6819
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19249
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 399
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genotype quality: GenotypeQuality
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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: 575
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1012
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-216390719-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390719
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390719
    reference: chr 1
allele count: 1
allele frequency: 8.398844319021702e-6
allele num: 119064
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3157+10C>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3157+10C>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3157+10C>G
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19541
  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
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20739
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  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
  all individuals: 1393
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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: 617
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5874
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

1-216390724-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390724
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390724
    reference: chr 1
allele count: 1
allele frequency: 8.386306838194597e-6
allele num: 119242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3157+5G>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3157+5G>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3157+5G>C
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20999
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6758
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 3.25e1
  variant carriers: 0
hgvs: c.3157+5G>C
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-216390731-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390731
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390731
    reference: chr 1
allele count: 1
allele frequency: 8.367920739054759e-6
allele num: 119504
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3155A>T
  hgvsp: ENSP00000305941.3:p.Lys1052Ile
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3155A>T
  hgvsp: ENSP00000355910.2:p.Lys1052Ile
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3155A>T
  hgvsp: ENSP00000355909.3:p.Lys1052Ile
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
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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: 612
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20890
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 845
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6757
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 619
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys1052Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-216390747-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390747
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390747
    reference: chr 1
allele count: 12
allele frequency: 9.998333611064822e-5
allele num: 120020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3139C>G
  hgvsp: ENSP00000355909.3:p.Leu1047Val
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3139C>G
  hgvsp: ENSP00000305941.3:p.Leu1047Val
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3139C>G
  hgvsp: ENSP00000355910.2:p.Leu1047Val
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 538
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1345
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 6765
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 20
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genotype quality: GenotypeQuality
  all individuals: 145
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genotype quality: GenotypeQuality
  all individuals: 6126
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 228
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genotype quality: GenotypeQuality
  all individuals: 135
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu1047Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

1-216390748-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390748
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390748
    reference: chr 1
allele count: 1
allele frequency: 8.330834083108401e-6
allele num: 120036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3138T>A
  hgvsp: ENSP00000355910.2:p.Asn1046Lys
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3138T>A
  hgvsp: ENSP00000355909.3:p.Asn1046Lys
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3138T>A
  hgvsp: ENSP00000305941.3:p.Asn1046Lys
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21157
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 978
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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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: 374
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 41377
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6759
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn1046Lys
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-216390763-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390763
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390763
    reference: chr 1
allele count: 183
allele frequency: 1.521576452980793e-3
allele num: 120270
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3123C>A
  hgvsp: ENSP00000305941.3:p.His1041Gln
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3123C>A
  hgvsp: ENSP00000355909.3:p.His1041Gln
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3123C>A
  hgvsp: ENSP00000355910.2:p.His1041Gln
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22101
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 20929
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6886
  bin: 9.75e1
  variant carriers: 178
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His1041Gln
num of homozygotes: 2
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

1-216390769-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390769
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390769
    reference: chr 1
allele count: 1
allele frequency: 8.310893919750009e-6
allele num: 120324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3117A>C
  hgvsp: ENST00000366943.2:c.3117A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3117A>C
  hgvsp: ENST00000307340.3:c.3117A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3117A>C
  hgvsp: ENST00000366942.3:c.3117A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6152
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6731
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1039Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-216390782-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390782
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390782
    reference: chr 1
allele count: 1
allele frequency: 8.307441806370146e-6
allele num: 120374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3104G>T
  hgvsp: ENSP00000355910.2:p.Cys1035Phe
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3104G>T
  hgvsp: ENSP00000355909.3:p.Cys1035Phe
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3104G>T
  hgvsp: ENSP00000305941.3:p.Cys1035Phe
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6145
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 163
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genotype quality: GenotypeQuality
  all individuals: 571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 834
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 609
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41454
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6729
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys1035Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

1-216390791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390791
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390791
    reference: chr 1
allele count: 1
allele frequency: 8.309650828472188e-6
allele num: 120342
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3095G>A
  hgvsp: ENSP00000305941.3:p.Cys1032Tyr
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3095G>A
  hgvsp: ENSP00000355910.2:p.Cys1032Tyr
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3095G>A
  hgvsp: ENSP00000355909.3:p.Cys1032Tyr
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
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genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 179
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 592
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 367
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genotype quality: GenotypeQuality
  all individuals: 6727
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genotype quality: GenotypeQuality
  all individuals: 157
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys1032Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-216390800-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390800
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390800
    reference: chr 1
allele count: 3
allele frequency: 2.492729538845035e-5
allele num: 120350
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3086G>T
  hgvsp: ENSP00000305941.3:p.Gly1029Val
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3086G>T
  hgvsp: ENSP00000355910.2:p.Gly1029Val
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3086G>T
  hgvsp: ENSP00000355909.3:p.Gly1029Val
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly1029Val
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS

1-216390826-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390826
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390826
    reference: chr 1
allele count: 1
allele frequency: 8.317391665973551e-6
allele num: 120230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3060G>C
  hgvsp: ENSP00000355909.3:p.Gln1020His
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3060G>C
  hgvsp: ENSP00000305941.3:p.Gln1020His
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3060G>C
  hgvsp: ENSP00000355910.2:p.Gln1020His
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22775
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6022
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6725
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln1020His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

1-216390832-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390832
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390832
    reference: chr 1
allele count: 1
allele frequency: 8.32126749546491e-6
allele num: 120174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3054A>G
  hgvsp: ENST00000366942.3:c.3054A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3054A>G
  hgvsp: ENST00000307340.3:c.3054A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3054A>G
  hgvsp: ENST00000366943.2:c.3054A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 234
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40883
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr1018Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-216390841-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390841
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390841
    reference: chr 1
allele count: 8
allele frequency: 6.659119664380368e-5
allele num: 120136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3045C>G
  hgvsp: ENSP00000355909.3:p.His1015Gln
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3045C>G
  hgvsp: ENSP00000355910.2:p.His1015Gln
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3045C>G
  hgvsp: ENSP00000305941.3:p.His1015Gln
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
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genotype quality: GenotypeQuality
  all individuals: 41370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6003
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 600
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6729
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His1015Gln
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-216390843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390843
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390843
    reference: chr 1
allele count: 16
allele frequency: 1.33217877839206e-4
allele num: 120104
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3043C>T
  hgvsp: ENSP00000305941.3:p.His1015Tyr
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3043C>T
  hgvsp: ENSP00000355909.3:p.His1015Tyr
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3043C>T
  hgvsp: ENSP00000355910.2:p.His1015Tyr
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22872
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6732
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His1015Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-216390845-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390845
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390845
    reference: chr 1
allele count: 1
allele frequency: 8.328058896032513e-6
allele num: 120076
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3041G>C
  hgvsp: ENSP00000355910.2:p.Cys1014Ser
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3041G>C
  hgvsp: ENSP00000305941.3:p.Cys1014Ser
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3041G>C
  hgvsp: ENSP00000355909.3:p.Cys1014Ser
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
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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: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
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genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6719
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys1014Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

1-216390847-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390847
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390847
    reference: chr 1
allele count: 1
allele frequency: 8.329307501374335e-6
allele num: 120058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3039C>T
  hgvsp: ENST00000366943.2:c.3039C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3039C>T
  hgvsp: ENST00000366942.3:c.3039C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3039C>T
  hgvsp: ENST00000307340.3:c.3039C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19997
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6717
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41560
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genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
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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: 815
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr1013Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

1-216390858-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390858
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390858
    reference: chr 1
allele count: 1
allele frequency: 8.343345347750633e-6
allele num: 119856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3028T>C
  hgvsp: ENST00000366943.2:c.3028T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3028T>C
  hgvsp: ENST00000366942.3:c.3028T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3028T>C
  hgvsp: ENST00000307340.3:c.3028T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22894
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  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
  all individuals: 819
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 126
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genotype quality: GenotypeQuality
  all individuals: 20
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genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 5953
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genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6717
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu1010Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-216390860-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390860
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390860
    reference: chr 1
allele count: 1
allele frequency: 8.346688034188035e-6
allele num: 119808
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3026C>G
  hgvsp: ENSP00000355910.2:p.Ala1009Gly
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3026C>G
  hgvsp: ENSP00000355909.3:p.Ala1009Gly
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3026C>G
  hgvsp: ENSP00000305941.3:p.Ala1009Gly
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41456
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala1009Gly
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-216390860-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390860
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390860
    reference: chr 1
allele count: 14
allele frequency: 1.168536324786325e-4
allele num: 119808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3026C>T
  hgvsp: ENSP00000355909.3:p.Ala1009Val
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3026C>T
  hgvsp: ENSP00000355910.2:p.Ala1009Val
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3026C>T
  hgvsp: ENSP00000305941.3:p.Ala1009Val
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22884
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41456
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 6721
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala1009Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

1-216390860-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390860
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390860
    reference: chr 1
allele count: 1
allele frequency: 8.346688034188035e-6
allele num: 119808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3026C>A
  hgvsp: ENSP00000355910.2:p.Ala1009Asp
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3026C>A
  hgvsp: ENSP00000305941.3:p.Ala1009Asp
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3026C>A
  hgvsp: ENSP00000355909.3:p.Ala1009Asp
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 818
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
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genotype quality: GenotypeQuality
  all individuals: 5933
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1100
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6721
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 41456
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 595
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genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala1009Asp
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

1-216390861-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390861
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390861
    reference: chr 1
allele count: 2
allele frequency: 1.669504824868944e-5
allele num: 119796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3025G>A
  hgvsp: ENSP00000355910.2:p.Ala1009Thr
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3025G>A
  hgvsp: ENSP00000355909.3:p.Ala1009Thr
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3025G>A
  hgvsp: ENSP00000305941.3:p.Ala1009Thr
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19821
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
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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
  all individuals: 140
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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: 817
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genotype quality: GenotypeQuality
  all individuals: 6706
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1234
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala1009Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-216390867-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390867
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390867
    reference: chr 1
allele count: 1
allele frequency: 8.360644772924887e-6
allele num: 119608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3019T>A
  hgvsp: ENSP00000355909.3:p.Ser1007Thr
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3019T>A
  hgvsp: ENSP00000355910.2:p.Ser1007Thr
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3019T>A
  hgvsp: ENSP00000305941.3:p.Ser1007Thr
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  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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genotype quality: GenotypeQuality
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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: 5882
  bin: 6.75e1
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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: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1007Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

1-216390874-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390874
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390874
    reference: chr 1
allele count: 3
allele frequency: 2.513868172753021e-5
allele num: 119338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3012T>C
  hgvsp: ENST00000366942.3:c.3012T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3012T>C
  hgvsp: ENST00000366943.2:c.3012T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3012T>C
  hgvsp: ENST00000307340.3:c.3012T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 3.75e1
  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
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 1100
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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: 1103
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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: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 6706
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 2.25e1
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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: 1201
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys1004Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

1-216390880-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390880
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390880
    reference: chr 1
allele count: 2
allele frequency: 1.682736803136621e-5
allele num: 118854
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.3006T>C
  hgvsp: ENST00000366943.2:c.3006T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.3006T>C
  hgvsp: ENST00000366942.3:c.3006T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.3006T>C
  hgvsp: ENST00000307340.3:c.3006T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  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
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  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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  bin: 6.75e1
  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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genotype quality: GenotypeQuality
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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: 1191
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  variant carriers: 0
hgvs: p.Cys1002Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-216390900-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390900
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390900
    reference: chr 1
allele count: 1
allele frequency: 8.577212062991046e-6
allele num: 116588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2994-8G>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2994-8G>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2994-8G>C
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
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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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  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 227
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  variant carriers: 0
hgvs: c.2994-8G>C
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS

http://identifiers.org/exac.variant/1-216390902-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390902
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390902
    reference: chr 1
allele count: 1
allele frequency: 8.61000137760022e-6
allele num: 116144
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2994-10T>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2994-10T>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2994-10T>G
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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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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: 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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 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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  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-216390912-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390912
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390912
    reference: chr 1
allele count: 1
allele frequency: 8.730879374170566e-6
allele num: 114536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2994-20T>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2994-20T>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2994-20T>G
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 979
  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 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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num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
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1-216390925-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390925
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390925
    reference: chr 1
allele count: 1
allele frequency: 8.88572951839346e-6
allele num: 112540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2994-33T>A
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2994-33T>A
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2994-33T>A
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  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 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: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-216390928-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390928
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390928
    reference: chr 1
allele count: 7
allele frequency: 6.25737476311367e-5
allele num: 111868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2994-36C>T
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2994-36C>T
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2994-36C>T
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
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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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  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
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1-216390937-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390937
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390937
    reference: chr 1
allele count: 20
allele frequency: 1.838404265097895e-4
allele num: 108790
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2994-45A>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2994-45A>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2994-45A>C
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-216390938-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216390938
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216390938
    reference: chr 1
allele count: 1
allele frequency: 9.326618168252191e-6
allele num: 107220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2994-46A>T
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2994-46A>T
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2994-46A>T
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13411
  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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  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 6688
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genotype quality: GenotypeQuality
  all individuals: 5088
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-216405250-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405250
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405250
    reference: chr 1
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2993+45C>T
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2993+45C>T
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2993+45C>T
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
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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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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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num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

1-216405263-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405263
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405263
    reference: chr 1
allele count: 2
allele frequency: 1.655190677966102e-5
allele num: 120832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2993+32C>A
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2993+32C>A
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2993+32C>A
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-216405263-GAGTTAAATTATTAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405263
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405249
    reference: chr 1
allele count: 2
allele frequency: 1.655190677966102e-5
allele num: 120832
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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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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  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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  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: GAGTTAAATTATTAA
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-216405264-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405264
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405264
    reference: chr 1
allele count: 1
allele frequency: 8.275679433281473e-6
allele num: 120836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2993+31T>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2993+31T>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2993+31T>G
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
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site quality: VQSLOD
site quality: DP
site quality: QD

1-216405264-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405264
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405264
    reference: chr 1
allele count: 1
allele frequency: 8.275679433281473e-6
allele num: 120836
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2993+31T>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2993+31T>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2993+31T>C
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 1.75e1
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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 quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
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site quality: QD
site quality: DP
site quality: FS
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site quality: InbreedingCoeff
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1-216405266-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405266
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405266
    reference: chr 1
allele count: 1
allele frequency: 8.274309922552459e-6
allele num: 120856
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2993+29A>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2993+29A>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2993+29A>G
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

1-216405278-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405278
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405278
    reference: chr 1
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2993+17T>A
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2993+17T>A
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2993+17T>A
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
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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: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

1-216405280-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405280
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405280
    reference: chr 1
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2993+15G>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2993+15G>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2993+15G>C
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39468
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-216405281-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405281
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405281
    reference: chr 1
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2993+14A>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2993+14A>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2993+14A>G
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
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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
  all individuals: 39474
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genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 2772
  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: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

1-216405285-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405285
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405285
    reference: chr 1
allele count: 5
allele frequency: 4.128819157720892e-5
allele num: 121100
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2993+10T>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2993+10T>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2993+10T>C
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10675
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17667
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17096
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 82
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2773
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genotype quality: GenotypeQuality
  all individuals: 1331
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 26
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genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-216405300-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405300
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405300
    reference: chr 1
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2988T>G
  hgvsp: ENST00000307340.3:c.2988T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2988T>G
  hgvsp: ENST00000366942.3:c.2988T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2988T>G
  hgvsp: ENST00000366943.2:c.2988T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
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genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 200
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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
  all individuals: 46
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 5550
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genotype depth: GenotypeDepth
  all individuals: 82
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 327
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26
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genotype quality: GenotypeQuality
  all individuals: 2776
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr996Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-216405315-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405315
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405315
    reference: chr 1
allele count: 2
allele frequency: 1.648967746190884e-5
allele num: 121288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2973A>G
  hgvsp: ENST00000366942.3:c.2973A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2973A>G
  hgvsp: ENST00000307340.3:c.2973A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2973A>G
  hgvsp: ENST00000366943.2:c.2973A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39613
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly991Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

1-216405316-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405316
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405316
    reference: chr 1
allele count: 11
allele frequency: 9.068724442685661e-5
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2972G>A
  hgvsp: ENSP00000305941.3:p.Gly991Glu
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2972G>A
  hgvsp: ENSP00000355910.2:p.Gly991Glu
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2972G>A
  hgvsp: ENSP00000355909.3:p.Gly991Glu
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  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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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly991Glu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

1-216405346-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405346
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405346
    reference: chr 1
allele count: 2
allele frequency: 1.649158104787506e-5
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2942G>A
  hgvsp: ENSP00000355909.3:p.Arg981His
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2942G>A
  hgvsp: ENSP00000355910.2:p.Arg981His
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2942G>A
  hgvsp: ENSP00000305941.3:p.Arg981His
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  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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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 310
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12193
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg981His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

1-216405368-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405368
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405368
    reference: chr 1
allele count: 45
allele frequency: 3.7111565613248e-4
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2920G>A
  hgvsp: ENSP00000355909.3:p.Asp974Asn
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2920G>A
  hgvsp: ENSP00000305941.3:p.Asp974Asn
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2920G>A
  hgvsp: ENSP00000355910.2:p.Asp974Asn
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  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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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype 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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 30
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp974Asn
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-216405369-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405369
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405369
    reference: chr 1
allele count: 5
allele frequency: 4.123779361309053e-5
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2919A>G
  hgvsp: ENST00000366942.3:c.2919A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2919A>G
  hgvsp: ENST00000366943.2:c.2919A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2919A>G
  hgvsp: ENST00000307340.3:c.2919A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 12188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln973Gln
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS

1-216405371-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405371
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405371
    reference: chr 1
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2917C>T
  hgvsp: ENSP00000355910.2:p.Gln973Ter
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2917C>T
  hgvsp: ENSP00000355909.3:p.Gln973Ter
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2917C>T
  hgvsp: ENSP00000305941.3:p.Gln973Ter
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12187
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln973Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

1-216405377-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405377
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405377
    reference: chr 1
allele count: 2
allele frequency: 1.649675014022238e-5
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2911G>A
  hgvsp: ENSP00000355910.2:p.Val971Ile
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2911G>A
  hgvsp: ENSP00000355909.3:p.Val971Ile
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2911G>A
  hgvsp: ENSP00000305941.3:p.Val971Ile
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12186
  bin: 6.75e1
  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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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val971Ile
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

1-216405381-C-CTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405381
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405383
    reference: chr 1
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: CTA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2906_2907insTA
  hgvsp: ENSP00000305941.3:p.Gln969HisfsTer43
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2906_2907insTA
  hgvsp: ENSP00000355910.2:p.Gln969HisfsTer43
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2906_2907insTA
  hgvsp: ENSP00000355909.3:p.Gln969HisfsTer43
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
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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: 12188
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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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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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39666
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln969HisfsTer43
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

1-216405394-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405394
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405394
    reference: chr 1
allele count: 3
allele frequency: 2.475451769948015e-5
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2894G>A
  hgvsp: ENSP00000355909.3:p.Ser965Asn
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2894G>A
  hgvsp: ENSP00000355910.2:p.Ser965Asn
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2894G>A
  hgvsp: ENSP00000305941.3:p.Ser965Asn
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser965Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/1-216405400-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405400
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405400
    reference: chr 1
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2888G>T
  hgvsp: ENSP00000355909.3:p.Cys963Phe
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2888G>T
  hgvsp: ENSP00000305941.3:p.Cys963Phe
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2888G>T
  hgvsp: ENSP00000355910.2:p.Cys963Phe
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 10678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
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genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 4.75e1
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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: 25
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 17156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12189
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1188
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys963Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

1-216405400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405400
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405400
    reference: chr 1
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2888G>A
  hgvsp: ENSP00000355909.3:p.Cys963Tyr
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2888G>A
  hgvsp: ENSP00000355910.2:p.Cys963Tyr
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2888G>A
  hgvsp: ENSP00000305941.3:p.Cys963Tyr
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 416
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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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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys963Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-216405416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405416
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405416
    reference: chr 1
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2872G>A
  hgvsp: ENSP00000355909.3:p.Ala958Thr
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2872G>A
  hgvsp: ENSP00000355910.2:p.Ala958Thr
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2872G>A
  hgvsp: ENSP00000305941.3:p.Ala958Thr
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 130
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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genotype depth: GenotypeDepth
  all individuals: 119
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 196
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genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  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
  all individuals: 27
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2695
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genotype quality: GenotypeQuality
  all individuals: 1187
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  variant carriers: 0
hgvs: p.Ala958Thr
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-216405418-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405418
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405418
    reference: chr 1
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2870G>C
  hgvsp: ENSP00000355909.3:p.Gly957Ala
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2870G>C
  hgvsp: ENSP00000305941.3:p.Gly957Ala
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2870G>C
  hgvsp: ENSP00000355910.2:p.Gly957Ala
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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: 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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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
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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: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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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
  all individuals: 2767
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20
  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: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 12180
  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: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39613
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly957Ala
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

1-216405419-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405419
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405419
    reference: chr 1
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2869G>A
  hgvsp: ENSP00000355909.3:p.Gly957Ser
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2869G>A
  hgvsp: ENSP00000305941.3:p.Gly957Ser
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2869G>A
  hgvsp: ENSP00000355910.2:p.Gly957Ser
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5554
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly957Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-216405427-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405427
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405427
    reference: chr 1
allele count: 3
allele frequency: 2.478232854759033e-5
allele num: 121054
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2861A>G
  hgvsp: ENSP00000305941.3:p.His954Arg
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2861A>G
  hgvsp: ENSP00000355909.3:p.His954Arg
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2861A>G
  hgvsp: ENSP00000355910.2:p.His954Arg
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 446
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  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
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genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
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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: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 309
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genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His954Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

1-216405431-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405431
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405431
    reference: chr 1
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2857T>C
  hgvsp: ENSP00000355909.3:p.Cys953Arg
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2857T>C
  hgvsp: ENSP00000355910.2:p.Cys953Arg
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2857T>C
  hgvsp: ENSP00000305941.3:p.Cys953Arg
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 4299
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 76
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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: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 196
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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: 2.75e1
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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
  all individuals: 12178
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  variant carriers: 0
hgvs: p.Cys953Arg
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-216405433-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405433
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405433
    reference: chr 1
allele count: 4
allele frequency: 3.305894409732553e-5
allele num: 120996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2855C>T
  hgvsp: ENSP00000355909.3:p.Ser952Leu
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2855C>T
  hgvsp: ENSP00000355910.2:p.Ser952Leu
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2855C>T
  hgvsp: ENSP00000305941.3:p.Ser952Leu
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 219
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 12175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39467
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser952Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-216405434-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405434
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405434
    reference: chr 1
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2854T>C
  hgvsp: ENSP00000355910.2:p.Ser952Pro
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2854T>C
  hgvsp: ENSP00000305941.3:p.Ser952Pro
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2854T>C
  hgvsp: ENSP00000355909.3:p.Ser952Pro
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 16
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 39485
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 327
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2759
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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: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser952Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-216405435-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405435
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405435
    reference: chr 1
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2853C>T
  hgvsp: ENST00000366943.2:c.2853C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2853C>T
  hgvsp: ENST00000307340.3:c.2853C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2853C>T
  hgvsp: ENST00000366942.3:c.2853C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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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: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 9.75e1
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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
  all individuals: 1183
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 39440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys951Cys
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

1-216405440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405440
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405440
    reference: chr 1
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2848C>T
  hgvsp: ENSP00000305941.3:p.Pro950Ser
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2848C>T
  hgvsp: ENSP00000355910.2:p.Pro950Ser
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2848C>T
  hgvsp: ENSP00000355909.3:p.Pro950Ser
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17113
  bin: 2.75e1
  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
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 24
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genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
  all individuals: 401
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro950Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

1-216405444-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405444
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405444
    reference: chr 1
allele count: 42
allele frequency: 3.486576679782836e-4
allele num: 120462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2844C>G
  hgvsp: ENSP00000355909.3:p.Cys948Trp
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2844C>G
  hgvsp: ENSP00000305941.3:p.Cys948Trp
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2844C>G
  hgvsp: ENSP00000355910.2:p.Cys948Trp
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 87
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genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 491
  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: 8.75e1
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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: 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: 56
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 2
hgvs: p.Cys948Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

1-216405452-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405452
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405452
    reference: chr 1
allele count: 1
allele frequency: 8.290361625574107e-6
allele num: 120622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2836A>G
  hgvsp: ENSP00000355910.2:p.Thr946Ala
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2836A>G
  hgvsp: ENSP00000355909.3:p.Thr946Ala
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2836A>G
  hgvsp: ENSP00000305941.3:p.Thr946Ala
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10798
  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
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 403
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  variant carriers: 0
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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  bin: 3.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr946Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-216405479-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405479
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405479
    reference: chr 1
allele count: 1
allele frequency: 8.476587664869631e-6
allele num: 117972
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2810-1G>A
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2810-1G>A
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2810-1G>A
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  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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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16670
  bin: 3.25e1
  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
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2810-1G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

1-216405495-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405495
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405493
    reference: chr 1
allele count: 1
allele frequency: 1.030311772342311e-5
allele num: 97058
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2810-19_2810-18delTT
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2810-19_2810-18delTT
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2810-19_2810-18delTT
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
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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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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
  all individuals: 1001
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: TAA
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-216405503-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405503
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405503
    reference: chr 1
allele count: 4
allele frequency: 4.908939178243582e-5
allele num: 81484
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2810-25A>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2810-25A>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2810-25A>G
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
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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: 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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 5.75e1
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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: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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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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  variant carriers: 0
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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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-216405503-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405503
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405503
    reference: chr 1
allele count: 1
allele frequency: 1.227234794560895e-5
allele num: 81484
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2810-25A>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2810-25A>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2810-25A>C
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  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 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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  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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  variant carriers: 0
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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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 570
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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: 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
  all individuals: 426
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genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-216405505-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405505
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405505
    reference: chr 1
allele count: 2
allele frequency: 2.4523027122468e-5
allele num: 81556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2810-27T>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2810-27T>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2810-27T>C
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

1-216405511-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405511
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405511
    reference: chr 1
allele count: 7
allele frequency: 9.292693288020391e-5
allele num: 75328
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2810-33T>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2810-33T>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2810-33T>C
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 620
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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 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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  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
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site quality: QD
site quality: MQ
site quality: ClippingRankSum

1-216405513-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405513
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405513
    reference: chr 1
allele count: 1
allele frequency: 1.35666802333469e-5
allele num: 73710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2810-35A>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2810-35A>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2810-35A>G
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3792
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11435
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

1-216405516-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405516
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405516
    reference: chr 1
allele count: 1
allele frequency: 1.443834825295986e-5
allele num: 69260
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2810-38A>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2810-38A>C
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2810-38A>C
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5438
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11468
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5379
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-216405517-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 216405517
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 216405517
    reference: chr 1
allele count: 5
allele frequency: 7.221676584435843e-5
allele num: 69236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355910
  ensembl transcript: ENST00000366943
  gene symbol: USH2A
  hgvsc: ENST00000366943.2:c.2810-39A>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000355909
  ensembl transcript: ENST00000366942
  gene symbol: USH2A
  hgvsc: ENST00000366942.3:c.2810-39A>G
  variant of: http://identifiers.org/hgnc/12601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000042781
  ensembl protein: ENSP00000305941
  ensembl transcript: ENST00000307340
  gene symbol: USH2A
  hgvsc: ENST00000307340.3:c.2810-39A>G
  variant of: http://identifiers.org/hgnc/12601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11518
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15937
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
reference allele: T

GenotypeQuality
all individuals: 372
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65242
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.198465963566635e-4
allele num: 8344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.751021e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.204e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: -3.459e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.32e-1

FS
type: SiteQuality
SIO_000300: 1.799e0

QD
type: SiteQuality
SIO_000300: 3.361e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 374
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530128224745234e-5
allele num: 65354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 5.537e0

QD
type: SiteQuality
SIO_000300: 1.207e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.365e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 1.764958e6

GenotypeQuality
all individuals: 6783
bin: 9.75e1
variant carriers: 25

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

African
type: Population
allele count: 25
allele frequency: 2.448100274187231e-3
allele num: 10212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.76759e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.423e0

VQSLOD
type: SiteQuality
SIO_000300: 5.6e0

QD
type: SiteQuality
SIO_000300: 1.334e1

GenotypeQuality
all individuals: 372
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528397627926881e-5
allele num: 65428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16254
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.048e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

DP
type: SiteQuality
SIO_000300: 1.770195e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

FS
type: SiteQuality
SIO_000300: 7.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

GenotypeQuality
all individuals: 369
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.134969325153375e-5
allele num: 16300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.780013e6

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

QD
type: SiteQuality
SIO_000300: 1.133e1

GenotypeQuality
all individuals: 371
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522255373561469e-5
allele num: 65692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.226e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

QD
type: SiteQuality
SIO_000300: 7.98e0

DP
type: SiteQuality
SIO_000300: 1.789618e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.129e0

VQSLOD
type: SiteQuality
SIO_000300: -1.853e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.817190623296384e-4
allele num: 66036
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2

DP
type: SiteQuality
SIO_000300: 1.80443e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.227e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8422
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6556
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.514004542013626e-5
allele num: 66050
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11386
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10336
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.821e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.19e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.034e1

VQSLOD
type: SiteQuality
SIO_000300: -1.58e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.429e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.804013e6

GenotypeQuality
all individuals: 78
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variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.5106196243637e-4
allele num: 11394
num of homozygotes: 0

South Asian
type: Population
allele count: 37
allele frequency: 2.254173266723529e-3
allele num: 16414
num of homozygotes: 1

African
type: Population
allele count: 4
allele frequency: 3.865481252415926e-4
allele num: 10348
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Finnish)
type: Population
allele count: 3
allele frequency: 4.574565416285453e-4
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
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allele count: 135
allele frequency: 2.038966923425464e-3
allele num: 66210
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 2.525e0

QD
type: SiteQuality
SIO_000300: 1.106e1

DP
type: SiteQuality
SIO_000300: 1.813659e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50993537476596e-5
allele num: 66228
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8454
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.39e-1

BaseQRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.179e1

VQSLOD
type: SiteQuality
SIO_000300: 6.41e-1

DP
type: SiteQuality
SIO_000300: 1.809353e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509433962264151e-5
allele num: 66250
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.84e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.811099e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50993537476596e-5
allele num: 66228
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

Other
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allele count: 0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.226e1

DP
type: SiteQuality
SIO_000300: 1.811141e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.530079729403237e-5
allele num: 66224
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.41e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.934e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.927e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.68e-1

DP
type: SiteQuality
SIO_000300: 1.811756e6

FS
type: SiteQuality
SIO_000300: 5.056e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.093102607847916e-5
allele num: 16412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66136
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.810278e6

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.180916391119509e-4
allele num: 8468
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 902
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 6
allele frequency: 9.084027252081756e-5
allele num: 66050
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6566
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South Asian
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allele count: 2
allele frequency: 1.218917601170161e-4
allele num: 16408
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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
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 16
allele frequency: 2.4232143938935e-4
allele num: 66028
num of homozygotes: 0

Latino
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allele num: 11388
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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African
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European (Finnish)
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num of homozygotes: 0

Latino
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East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66014
num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

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

East Asian
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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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European (Non-Finnish)
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allele frequency: 1.518233990222573e-5
allele num: 65866
num of homozygotes: 0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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FS
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QD
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MQ
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
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allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.519064256418047e-5
allele num: 65830
num of homozygotes: 0

MQ
type: SiteQuality
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InbreedingCoeff
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DP
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ReadPosRankSum
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FS
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QD
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MQRankSum
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.519064256418047e-5
allele num: 65830
num of homozygotes: 0

African
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allele frequency: 1.259201859744285e-3
allele num: 10324
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.519064256418047e-5
allele num: 65830
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

DP
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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QD
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InbreedingCoeff
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.986e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65818
num of homozygotes: 0

African
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allele frequency: 1.937608990505716e-4
allele num: 10322
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16366
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

DP
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.232e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.26e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.521653123953863e-5
allele num: 65718
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.92e-1

MQRankSum
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FS
type: SiteQuality
SIO_000300: 9.409999999999999e-1

InbreedingCoeff
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.24e1

DP
type: SiteQuality
SIO_000300: 1.803469e6

GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.52545992616774e-5
allele num: 65554
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.76056338028169e-4
allele num: 11360
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8416
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.24e-1

FS
type: SiteQuality
SIO_000300: 6.512e0

DP
type: SiteQuality
SIO_000300: 1.799265e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
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allele count: 2
allele frequency: 1.763668430335097e-4
allele num: 11340
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6528
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65256
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African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.790119e6

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.742e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.004e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11218
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.562988433885589e-5
allele num: 63980
num of homozygotes: 0

MQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.734507e6

FS
type: SiteQuality
SIO_000300: 2.032e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8124
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 888
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9922
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.569563033651432e-5
allele num: 63712
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11182
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QD
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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FS
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11096
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

Other
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num of homozygotes: 0

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

African
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allele frequency: 1.031140441328109e-4
allele num: 9698
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15684
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62838
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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VQSLOD
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MQRankSum
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MQ
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SIO_000300: 5.949e1

ClippingRankSum
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QD
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East 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: 6342
num of homozygotes: 0

African
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 9.117432530999271e-5
allele num: 10968
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61710
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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FS
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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MQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.141999477943096e-4
allele num: 61296
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

South Asian
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Latino
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Other
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allele count: 0
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East Asian
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
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Latino
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East Asian
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South Asian
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European (Finnish)
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African
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allele frequency: 2.231644722160232e-3
allele num: 8962
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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FS
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VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
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DP
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MQ
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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South Asian
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allele frequency: 6.739452756436177e-5
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European (Non-Finnish)
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allele count: 0
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allele num: 58746
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7068
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 4.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.784e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.091e1

FS
type: SiteQuality
SIO_000300: 1.4151e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.207e0

DP
type: SiteQuality
SIO_000300: 1.375745e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

GenotypeQuality
all individuals: 328
bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.067e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

FS
type: SiteQuality
SIO_000300: 8.805999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.505e0

DP
type: SiteQuality
SIO_000300: 2.051988e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.247e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.007971123477215e-5
allele num: 66490
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 2.057486e6

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.29e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 4.97e0

FS
type: SiteQuality
SIO_000300: 2.481e0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 2.057486e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8592
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

FS
type: SiteQuality
SIO_000300: 1.262e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 2.057486e6

QD
type: SiteQuality
SIO_000300: 1.19e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.057486e6

FS
type: SiteQuality
SIO_000300: 1.262e0

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
all individuals: 327
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-2

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.11e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.05795e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

QD
type: SiteQuality
SIO_000300: 1.576e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.89e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -8.985e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.644e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 4.446e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.077e0

DP
type: SiteQuality
SIO_000300: 2.061854e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.383e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.27e-1

QD
type: SiteQuality
SIO_000300: 1.607e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

FS
type: SiteQuality
SIO_000300: 7.031e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

MQRankSum
type: SiteQuality
SIO_000300: -1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

DP
type: SiteQuality
SIO_000300: 2.062538e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

DP
type: SiteQuality
SIO_000300: 2.062575e6

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -8.085e-1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.378e1

MQ
type: SiteQuality
SIO_000300: 5.937e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.507282063601693e-5
allele num: 66602
num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
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South Asian
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num of homozygotes: 0

FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.063744e6

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

East Asian
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African
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allele frequency: 0.0e0
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Latino
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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Other
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South Asian
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allele num: 16508
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.63e-1

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

African
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num of homozygotes: 0

Latino
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allele frequency: 9.512279488066413e-4
allele num: 11564
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
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ReadPosRankSum
type: SiteQuality
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FS
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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South Asian
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Latino
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African
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allele frequency: 1.926782273603083e-4
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Other
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VQSLOD
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FS
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BaseQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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MQ
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DP
type: SiteQuality
SIO_000300: 2.064279e6

GenotypeQuality
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variant carriers: 0

African
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Other
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.64902266043937e-5
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European (Non-Finnish)
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allele frequency: 1.499610101373643e-5
allele num: 66684
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South Asian
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allele frequency: 2.6047976738551e-3
allele num: 16508
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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DP
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ClippingRankSum
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MQ
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QD
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

East Asian
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African
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allele frequency: 3.854307188282906e-4
allele num: 10378
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66684
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South Asian
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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ClippingRankSum
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FS
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Latino
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South Asian
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East Asian
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African
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European (Non-Finnish)
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Other
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele frequency: 6.05913717886573e-5
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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allele frequency: 8.64902266043937e-5
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African
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MQ
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DP
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InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 2.894076789504148e-4
allele num: 10366
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South Asian
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Other
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East Asian
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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QD
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FS
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DP
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GenotypeQuality
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variant carriers: 0

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

East Asian
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Latino
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num of homozygotes: 0

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

European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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African
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allele frequency: 9.654373431164318e-5
allele num: 10358
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South Asian
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Other
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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African
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East Asian
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Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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ReadPosRankSum
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BaseQRankSum
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DP
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QD
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MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 8.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

FS
type: SiteQuality
SIO_000300: 2.429e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.507346975570179e-5
allele num: 66558
num of homozygotes: 0

East Asian
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allele frequency: 1.166588894073728e-4
allele num: 8572
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.057828e6

FS
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

QD
type: SiteQuality
SIO_000300: 1.15e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.815e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66560
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African
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allele frequency: 9.68429207824908e-5
allele num: 10326
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

ReadPosRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.85e1

DP
type: SiteQuality
SIO_000300: 2.05744e6

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 7.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.168e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
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African
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allele frequency: 9.688044952528579e-5
allele num: 10322
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66542
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.05706e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

FS
type: SiteQuality
SIO_000300: 1.0025e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

QD
type: SiteQuality
SIO_000300: 1.067e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.689922480620155e-5
allele num: 10320
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 902
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MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.69e-1

QD
type: SiteQuality
SIO_000300: 9.02e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 5.822e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.167e0

DP
type: SiteQuality
SIO_000300: 2.056564e6

VQSLOD
type: SiteQuality
SIO_000300: -2.777e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

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

European (Non-Finnish)
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allele count: 32
allele frequency: 4.833982899785492e-4
allele num: 66198
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

African
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allele count: 10
allele frequency: 9.800078400627205e-4
allele num: 10204
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Other
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.19e-1

QD
type: SiteQuality
SIO_000300: 5.1e-1

DP
type: SiteQuality
SIO_000300: 2.064327e6

VQSLOD
type: SiteQuality
SIO_000300: -5.908e0

FS
type: SiteQuality
SIO_000300: 3.1756e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.543e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10234
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66338
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
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Other
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allele frequency: 0.0e0
allele num: 900
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.159e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.26e-1

DP
type: SiteQuality
SIO_000300: 2.046447e6

MQ
type: SiteQuality
SIO_000300: 5.933e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.27e-1

QD
type: SiteQuality
SIO_000300: 1.522e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.096817461285209e-5
allele num: 16402
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9542
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64852
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.694e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.565e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

DP
type: SiteQuality
SIO_000300: 1.934297e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 2.631e0

QD
type: SiteQuality
SIO_000300: 5.37e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5520
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 1.402131239484016e-4
allele num: 7132
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 53084
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

FS
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.781e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.316942e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 2.447e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9176
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 8.99847026005579e-5
allele num: 44452
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4034
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MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
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FS
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DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 4034
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 1.089799476896251e-4
allele num: 9176
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44452
num of homozygotes: 0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 2.247898215168817e-5
allele num: 44486
num of homozygotes: 0

Latino
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allele frequency: 1.091464745688714e-4
allele num: 9162
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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num of homozygotes: 0

East Asian
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South Asian
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Other
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allele frequency: 0.0e0
allele num: 612
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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: 2.979737783075089e-4
allele num: 3356
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.462629808395495e-4
allele num: 41022
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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FS
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
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ClippingRankSum
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Other
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African
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European (Non-Finnish)
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South Asian
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allele frequency: 7.587253414264036e-5
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Latino
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East Asian
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European (Finnish)
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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QD
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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Latino
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allele frequency: 0.0e0
allele num: 8000
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European (Non-Finnish)
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allele frequency: 2.663257696814744e-5
allele num: 37548
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2858
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 1.356e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

DP
type: SiteQuality
SIO_000300: 7.85618e5

GenotypeQuality
all individuals: 950
bin: 9.75e1
variant carriers: 5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4964
num of homozygotes: 0