19-17373417-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373417
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373417
    reference: chr 19
allele count: 7
allele frequency: 5.8688398142093e-5
allele num: 119274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1390C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.394C>T
  hgvsp: ENSP00000407902.2:p.Arg132Cys
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.564C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.586C>T
  hgvsp: ENSP00000324174.5:p.Arg196Cys
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.586C>T
  hgvsp: ENSP00000252597.2:p.Arg196Cys
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3767
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg196Cys
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

19-17373426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373426
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373426
    reference: chr 19
allele count: 1
allele frequency: 8.357989402069439e-6
allele num: 119646
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.577G>A
  hgvsp: ENSP00000252597.2:p.Glu193Lys
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1381G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.555G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.577G>A
  hgvsp: ENSP00000324174.5:p.Glu193Lys
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.385G>A
  hgvsp: ENSP00000407902.2:p.Glu129Lys
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3778
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9276
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu193Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

19-17373429-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373429
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373429
    reference: chr 19
allele count: 19
allele frequency: 1.587248546414489e-4
allele num: 119704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.382G>C
  hgvsp: ENSP00000407902.2:p.Asp128His
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1378G>C
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.574G>C
  hgvsp: ENSP00000324174.5:p.Asp192His
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.552G>C
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.574G>C
  hgvsp: ENSP00000252597.2:p.Asp192His
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12151
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
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: 9293
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  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp192His
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-17373429-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373429
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373429
    reference: chr 19
allele count: 2
allele frequency: 1.670787943594199e-5
allele num: 119704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.574G>A
  hgvsp: ENSP00000324174.5:p.Asp192Asn
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.574G>A
  hgvsp: ENSP00000252597.2:p.Asp192Asn
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.382G>A
  hgvsp: ENSP00000407902.2:p.Asp128Asn
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1378G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.552G>A
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp192Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

19-17373434-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373434
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373434
    reference: chr 19
allele count: 58
allele frequency: 4.845123132956861e-4
allele num: 119708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.377G>C
  hgvsp: ENSP00000407902.2:p.Arg126Pro
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1373G>C
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.569G>C
  hgvsp: ENSP00000252597.2:p.Arg190Pro
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.569G>C
  hgvsp: ENSP00000324174.5:p.Arg190Pro
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.547G>C
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15222
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg190Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

19-17373434-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373434
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373434
    reference: chr 19
allele count: 2
allele frequency: 1.670732114812711e-5
allele num: 119708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1373G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.377G>A
  hgvsp: ENSP00000407902.2:p.Arg126Gln
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.569G>A
  hgvsp: ENSP00000324174.5:p.Arg190Gln
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.547G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.569G>A
  hgvsp: ENSP00000252597.2:p.Arg190Gln
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22741
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9325
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg190Gln
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

19-17373435-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373435
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373435
    reference: chr 19
allele count: 5
allele frequency: 4.175644301915786e-5
allele num: 119742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.376C>T
  hgvsp: ENSP00000407902.2:p.Arg126Ter
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.546C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.568C>T
  hgvsp: ENSP00000252597.2:p.Arg190Ter
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.568C>T
  hgvsp: ENSP00000324174.5:p.Arg190Ter
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1372C>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17022
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22631
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9293
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg190Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

19-17373435-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373435
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373435
    reference: chr 19
allele count: 2
allele frequency: 1.670257720766314e-5
allele num: 119742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.568C>G
  hgvsp: ENSP00000324174.5:p.Arg190Gly
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1372C>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.376C>G
  hgvsp: ENSP00000407902.2:p.Arg126Gly
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.546C>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.568C>G
  hgvsp: ENSP00000252597.2:p.Arg190Gly
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg190Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-17373443-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373443
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373443
    reference: chr 19
allele count: 3
allele frequency: 2.501709501492687e-5
allele num: 119918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.538T>C
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.560T>C
  hgvsp: ENSP00000324174.5:p.Leu187Pro
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.560T>C
  hgvsp: ENSP00000252597.2:p.Leu187Pro
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.368T>C
  hgvsp: ENSP00000407902.2:p.Leu123Pro
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1364T>C
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9289
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu187Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-17373444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373444
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373444
    reference: chr 19
allele count: 1
allele frequency: 8.339031671642289e-6
allele num: 119918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.559C>T
  hgvsp: ENST00000324554.5:c.559C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.367C>T
  hgvsp: ENST00000431146.2:c.367C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.537C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1363C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.559C>T
  hgvsp: ENST00000252597.3:c.559C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7703
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu187Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

19-17373445-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373445
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373445
    reference: chr 19
allele count: 1
allele frequency: 8.335834083558401e-6
allele num: 119964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1362C>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.536C>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.366C>G
  hgvsp: ENST00000431146.2:c.366C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.558C>G
  hgvsp: ENST00000324554.5:c.558C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.558C>G
  hgvsp: ENST00000252597.3:c.558C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3746
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala186Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

19-17373452-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373452
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373452
    reference: chr 19
allele count: 4
allele frequency: 3.332555736994701e-5
allele num: 120028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.551G>A
  hgvsp: ENSP00000324174.5:p.Arg184Gln
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.529G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.359G>A
  hgvsp: ENSP00000407902.2:p.Arg120Gln
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1355G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.551G>A
  hgvsp: ENSP00000252597.2:p.Arg184Gln
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7725
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9293
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg184Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-17373453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373453
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373453
    reference: chr 19
allele count: 12
allele frequency: 9.99267204050363e-5
allele num: 120088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.528C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.550C>T
  hgvsp: ENSP00000252597.2:p.Arg184Trp
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.358C>T
  hgvsp: ENSP00000407902.2:p.Arg120Trp
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.550C>T
  hgvsp: ENSP00000324174.5:p.Arg184Trp
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1354C>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17076
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3751
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9297
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg184Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

19-17373455-A-AGCCAGGCATTCCTCTCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373455
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373472
    reference: chr 19
allele count: 2
allele frequency: 1.664253499092982e-5
allele num: 120174
alternate allele: AGCCAGGCATTCCTCTCG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsp: ENSP00000252597.2:p.Leu183ProfsTer11
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsp: ENSP00000324174.5:p.Leu183ProfsTer11
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsp: ENSP00000407902.2:p.Leu119ProfsTer11
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9291
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu183ProfsTer11
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-17373456-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373456
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373456
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 120186
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.547C>G
  hgvsp: ENSP00000252597.2:p.Leu183Val
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1351C>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.547C>G
  hgvsp: ENSP00000324174.5:p.Leu183Val
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.355C>G
  hgvsp: ENSP00000407902.2:p.Leu119Val
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.525C>G
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 15534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9289
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu183Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

19-17373471-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373471
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373471
    reference: chr 19
allele count: 20
allele frequency: 1.665195743759679e-4
allele num: 120106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.340G>A
  hgvsp: ENSP00000407902.2:p.Glu114Lys
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1336G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.532G>A
  hgvsp: ENSP00000252597.2:p.Glu178Lys
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.532G>A
  hgvsp: ENSP00000324174.5:p.Glu178Lys
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.510G>A
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12127
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3753
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu178Lys
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

19-17373472-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373472
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373472
    reference: chr 19
allele count: 2
allele frequency: 1.665389867768044e-5
allele num: 120092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.531C>T
  hgvsp: ENST00000324554.5:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.531C>T
  hgvsp: ENST00000252597.3:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1335C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.339C>T
  hgvsp: ENST00000431146.2:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.509C>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9297
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala177Ala
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

19-17373472-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373472
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373472
    reference: chr 19
allele count: 8
allele frequency: 6.661559471072177e-5
allele num: 120092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.339C>G
  hgvsp: ENST00000431146.2:c.339C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.531C>G
  hgvsp: ENST00000252597.3:c.531C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.509C>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1335C>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.531C>G
  hgvsp: ENST00000324554.5:c.531C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5126
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala177Ala
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

19-17373479-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373479
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373479
    reference: chr 19
allele count: 6
allele frequency: 4.995670418970226e-5
allele num: 120104
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.524G>A
  hgvsp: ENSP00000252597.2:p.Arg175His
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.524G>A
  hgvsp: ENSP00000324174.5:p.Arg175His
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.332G>A
  hgvsp: ENSP00000407902.2:p.Arg111His
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1328G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.502G>A
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg175His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

19-17373480-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373480
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373480
    reference: chr 19
allele count: 1
allele frequency: 8.319744417451495e-6
allele num: 120196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.331C>A
  hgvsp: ENSP00000407902.2:p.Arg111Ser
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.501C>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.523C>A
  hgvsp: ENSP00000252597.2:p.Arg175Ser
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.523C>A
  hgvsp: ENSP00000324174.5:p.Arg175Ser
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1327C>A
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg175Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/19-17373491-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373491
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373491
    reference: chr 19
allele count: 2
allele frequency: 1.660577881102624e-5
allele num: 120440
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.512G>T
  hgvsp: ENSP00000252597.2:p.Arg171Leu
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.490G>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.512G>T
  hgvsp: ENSP00000324174.5:p.Arg171Leu
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.320G>T
  hgvsp: ENSP00000407902.2:p.Arg107Leu
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1316G>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7869
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9297
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg171Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

19-17373491-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373491
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373491
    reference: chr 19
allele count: 5
allele frequency: 4.151444702756559e-5
allele num: 120440
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.512G>A
  hgvsp: ENSP00000324174.5:p.Arg171Gln
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.320G>A
  hgvsp: ENSP00000407902.2:p.Arg107Gln
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.512G>A
  hgvsp: ENSP00000252597.2:p.Arg171Gln
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.490G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1316G>A
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9297
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3792
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg171Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

19-17373499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373499
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373499
    reference: chr 19
allele count: 11
allele frequency: 9.124693078505541e-5
allele num: 120552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.504C>T
  hgvsp: ENST00000324554.5:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.504C>T
  hgvsp: ENST00000252597.3:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1308C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.312C>T
  hgvsp: ENST00000431146.2:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.482C>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9303
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser168Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-17373502-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373502
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373502
    reference: chr 19
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1305G>C
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.501G>C
  hgvsp: ENST00000252597.3:c.501G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.479G>C
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.501G>C
  hgvsp: ENST00000324554.5:c.501G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.309G>C
  hgvsp: ENST00000431146.2:c.309G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly167Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

19-17373504-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373504
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373504
    reference: chr 19
allele count: 16
allele frequency: 1.325732467188121e-4
allele num: 120688
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.477G>C
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.499G>C
  hgvsp: ENSP00000252597.2:p.Gly167Arg
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.307G>C
  hgvsp: ENSP00000407902.2:p.Gly103Arg
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.499G>C
  hgvsp: ENSP00000324174.5:p.Gly167Arg
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1303G>C
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly167Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

19-17373516-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373516
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373516
    reference: chr 19
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.487C>G
  hgvsp: ENSP00000252597.2:p.Gln163Glu
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.465C>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.487C>G
  hgvsp: ENSP00000324174.5:p.Gln163Glu
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.295C>G
  hgvsp: ENSP00000407902.2:p.Gln99Glu
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1291C>G
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12342
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9311
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3832
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln163Glu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS

http://identifiers.org/exac.variant/19-17373530-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373530
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373530
    reference: chr 19
allele count: 6
allele frequency: 4.96089163759033e-5
allele num: 120946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.281G>T
  hgvsp: ENSP00000407902.2:p.Gly94Val
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.473G>T
  hgvsp: ENSP00000252597.2:p.Gly158Val
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.473G>T
  hgvsp: ENSP00000324174.5:p.Gly158Val
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1277G>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.451G>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8043
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9314
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly158Val
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

19-17373530-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373530
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373530
    reference: chr 19
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1277G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.473G>A
  hgvsp: ENSP00000324174.5:p.Gly158Asp
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.451G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.473G>A
  hgvsp: ENSP00000252597.2:p.Gly158Asp
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.281G>A
  hgvsp: ENSP00000407902.2:p.Gly94Asp
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9314
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8043
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly158Asp
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP

19-17373535-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373535
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373536
    reference: chr 19
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: TC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.467dupG
  hgvsp: ENSP00000252597.2:p.Ala157SerfsTer33
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.445dupG
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.467dupG
  hgvsp: ENSP00000324174.5:p.Ala157SerfsTer33
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1271dupG
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.275dupG
  hgvsp: ENSP00000407902.2:p.Ala93SerfsTer33
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9312
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4348
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala157SerfsTer33
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/19-17373538-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373538
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373538
    reference: chr 19
allele count: 1
allele frequency: 8.266375690242371e-6
allele num: 120972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.273G>T
  hgvsp: ENST00000431146.2:c.273G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1269G>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.465G>T
  hgvsp: ENST00000324554.5:c.465G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.465G>T
  hgvsp: ENST00000252597.3:c.465G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.443G>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9313
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly155Gly
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-17373540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373540
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373540
    reference: chr 19
allele count: 4
allele frequency: 3.306386285109689e-5
allele num: 120978
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.463G>A
  hgvsp: ENSP00000252597.2:p.Gly155Arg
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.271G>A
  hgvsp: ENSP00000407902.2:p.Gly91Arg
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.463G>A
  hgvsp: ENSP00000324174.5:p.Gly155Arg
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1267G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.441G>A
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9316
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly155Arg
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

19-17373544-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373544
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373544
    reference: chr 19
allele count: 5
allele frequency: 4.133187845121185e-5
allele num: 120972
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.459C>T
  hgvsp: ENST00000252597.3:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.459C>T
  hgvsp: ENST00000324554.5:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1263C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.267C>T
  hgvsp: ENST00000431146.2:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.437C>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9316
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser153Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

19-17373545-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373545
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373545
    reference: chr 19
allele count: 5
allele frequency: 4.133461195066301e-5
allele num: 120964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.266G>C
  hgvsp: ENSP00000407902.2:p.Ser89Thr
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.458G>C
  hgvsp: ENSP00000324174.5:p.Ser153Thr
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.436G>C
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.458G>C
  hgvsp: ENSP00000252597.2:p.Ser153Thr
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1262G>C
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9318
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 8048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser153Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

19-17373553-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373553
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373553
    reference: chr 19
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.428A>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.450A>G
  hgvsp: ENST00000324554.5:c.450A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1254A>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.258A>G
  hgvsp: ENST00000431146.2:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.450A>G
  hgvsp: ENST00000252597.3:c.450A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9317
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu150Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

19-17373556-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373556
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373556
    reference: chr 19
allele count: 2
allele frequency: 1.653794631782625e-5
allele num: 120934
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.447C>T
  hgvsp: ENST00000252597.3:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.255C>T
  hgvsp: ENST00000431146.2:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.447C>T
  hgvsp: ENST00000324554.5:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1251C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.425C>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17262
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8017
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3836
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe149Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-17373559-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373559
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373559
    reference: chr 19
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.444G>T
  hgvsp: ENSP00000252597.2:p.Glu148Asp
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.444G>T
  hgvsp: ENSP00000324174.5:p.Glu148Asp
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1248G>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.252G>T
  hgvsp: ENSP00000407902.2:p.Glu84Asp
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.422G>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8016
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3836
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu148Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-17373565-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373565
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373565
    reference: chr 19
allele count: 1
allele frequency: 8.271572260455268e-6
allele num: 120896
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.438G>T
  hgvsp: ENST00000252597.3:c.438G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.416G>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1242G>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.246G>T
  hgvsp: ENST00000431146.2:c.246G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.438G>T
  hgvsp: ENST00000324554.5:c.438G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro146Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

19-17373566-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373566
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373566
    reference: chr 19
allele count: 90
allele frequency: 7.445769975346229e-4
allele num: 120874
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.437C>T
  hgvsp: ENSP00000252597.2:p.Pro146Leu
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.245C>T
  hgvsp: ENSP00000407902.2:p.Pro82Leu
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.437C>T
  hgvsp: ENSP00000324174.5:p.Pro146Leu
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1241C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.415C>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12341
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17116
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16098
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9393
  bin: 9.75e1
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro146Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

19-17373572-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373572
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373572
    reference: chr 19
allele count: 3
allele frequency: 2.482128673550437e-5
allele num: 120864
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.431C>G
  hgvsp: ENSP00000252597.2:p.Ser144Cys
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.431C>G
  hgvsp: ENSP00000324174.5:p.Ser144Cys
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.239C>G
  hgvsp: ENSP00000407902.2:p.Ser80Cys
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.409C>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1235C>G
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser144Cys
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum

19-17373579-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373579
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373580
    reference: chr 19
allele count: 4
allele frequency: 3.325020781379884e-5
allele num: 120300
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1227dupC
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.231dupC
  hgvsp: ENSP00000407902.2:p.Ser78GlnfsTer48
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.423dupC
  hgvsp: ENSP00000252597.2:p.Ser142GlnfsTer48
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.423dupC
  hgvsp: ENSP00000324174.5:p.Ser142GlnfsTer48
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.401dupC
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15293
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9242
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22712
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser142GlnfsTer48
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-17373580-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373580
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373580
    reference: chr 19
allele count: 1
allele frequency: 8.307165761185599e-6
allele num: 120378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.423C>G
  hgvsp: ENST00000324554.5:c.423C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.231C>G
  hgvsp: ENST00000431146.2:c.231C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1227C>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.423C>G
  hgvsp: ENST00000252597.3:c.423C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.401C>G
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5066
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro141Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

19-17373581-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373581
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373581
    reference: chr 19
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1226C>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.422C>G
  hgvsp: ENSP00000324174.5:p.Pro141Arg
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.230C>G
  hgvsp: ENSP00000407902.2:p.Pro77Arg
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.422C>G
  hgvsp: ENSP00000252597.2:p.Pro141Arg
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.400C>G
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3707
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5072
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro141Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-17373584-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373584
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373584
    reference: chr 19
allele count: 1
allele frequency: 8.297515723792297e-6
allele num: 120518
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.419C>T
  hgvsp: ENSP00000252597.2:p.Pro140Leu
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.419C>T
  hgvsp: ENSP00000324174.5:p.Pro140Leu
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.397C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.227C>T
  hgvsp: ENSP00000407902.2:p.Pro76Leu
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1223C>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7586
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro140Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

19-17373594-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373594
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373594
    reference: chr 19
allele count: 5
allele frequency: 4.153720903185073e-5
allele num: 120374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.409C>T
  hgvsp: ENSP00000324174.5:p.Arg137Cys
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.387C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.217C>T
  hgvsp: ENSP00000407902.2:p.Arg73Cys
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.577C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.409C>T
  hgvsp: ENSP00000252597.2:p.Arg137Cys
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1213C>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg137Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

19-17373602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373602
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373602
    reference: chr 19
allele count: 1
allele frequency: 8.314072398942449e-6
allele num: 120278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.209C>T
  hgvsp: ENSP00000407902.2:p.Ala70Val
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1205C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.401C>T
  hgvsp: ENSP00000252597.2:p.Ala134Val
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.379C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.401C>T
  hgvsp: ENSP00000324174.5:p.Ala134Val
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.569C>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22839
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7615
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9272
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5080
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala134Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

19-17373607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373607
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373607
    reference: chr 19
allele count: 2
allele frequency: 1.656534199148542e-5
allele num: 120734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.564G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.396G>A
  hgvsp: ENST00000252597.3:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1200G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.396G>A
  hgvsp: ENST00000324554.5:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.204G>A
  hgvsp: ENST00000431146.2:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.374G>A
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3774
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala132Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

19-17373608-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373608
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373608
    reference: chr 19
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.563C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.203C>T
  hgvsp: ENSP00000407902.2:p.Ala68Val
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.395C>T
  hgvsp: ENSP00000324174.5:p.Ala132Val
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.373C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.395C>T
  hgvsp: ENSP00000252597.2:p.Ala132Val
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1199C>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24087
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9306
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala132Val
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

19-17373624-TCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373624
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373622
    reference: chr 19
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.185_186delTG
  hgvsp: ENSP00000407902.2:p.Leu62GlnfsTer63
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.355_356delTG
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.377_378delTG
  hgvsp: ENSP00000252597.2:p.Leu126GlnfsTer63
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.377_378delTG
  hgvsp: ENSP00000324174.5:p.Leu126GlnfsTer63
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1181_*1182delTG
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.545_546delTG
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu126GlnfsTer63
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: TCA
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

19-17373626-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373626
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373626
    reference: chr 19
allele count: 1
allele frequency: 8.273351534706709e-6
allele num: 120870
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.377T>C
  hgvsp: ENSP00000252597.2:p.Leu126Pro
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1181T>C
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.185T>C
  hgvsp: ENSP00000407902.2:p.Leu62Pro
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.377T>C
  hgvsp: ENSP00000324174.5:p.Leu126Pro
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.355T>C
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.545T>C
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24504
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu126Pro
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-17373627-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373627
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373627
    reference: chr 19
allele count: 4
allele frequency: 3.309395373465268e-5
allele num: 120868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.184C>T
  hgvsp: ENST00000431146.2:c.184C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.376C>T
  hgvsp: ENST00000324554.5:c.376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1180C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.376C>T
  hgvsp: ENST00000252597.3:c.376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.544C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.354C>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12403
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24454
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7864
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu126Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

19-17373631-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373631
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373631
    reference: chr 19
allele count: 10
allele frequency: 8.269656974628693e-5
allele num: 120924
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.372C>T
  hgvsp: ENST00000324554.5:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.372C>T
  hgvsp: ENST00000252597.3:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.540C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1176C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.180C>T
  hgvsp: ENST00000431146.2:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.350C>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7868
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His124His
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

19-17373635-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373635
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373635
    reference: chr 19
allele count: 4
allele frequency: 3.307370475103769e-5
allele num: 120942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.368A>T
  hgvsp: ENSP00000324174.5:p.Gln123Leu
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.536A>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.176A>T
  hgvsp: ENSP00000407902.2:p.Gln59Leu
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.346A>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1172A>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.368A>T
  hgvsp: ENSP00000252597.2:p.Gln123Leu
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 24549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5136
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln123Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

19-17373636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373636
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373636
    reference: chr 19
allele count: 2
allele frequency: 1.653466492501529e-5
allele num: 120958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.535C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1171C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.367C>T
  hgvsp: ENSP00000252597.2:p.Gln123Ter
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.175C>T
  hgvsp: ENSP00000407902.2:p.Gln59Ter
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.367C>T
  hgvsp: ENSP00000324174.5:p.Gln123Ter
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.345C>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln123Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

19-17373639-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373639
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373639
    reference: chr 19
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.364C>G
  hgvsp: ENSP00000324174.5:p.Leu122Val
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.364C>G
  hgvsp: ENST00000594190.1:c.364C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.172C>G
  hgvsp: ENSP00000407902.2:p.Leu58Val
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.364C>G
  hgvsp: ENSP00000252597.2:p.Leu122Val
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.342C>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1168C>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.532C>G
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu122Val
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: G
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

19-17373643-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373643
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373643
    reference: chr 19
allele count: 1
allele frequency: 8.268836409340477e-6
allele num: 120936
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.360G>A
  hgvsp: ENST00000252597.3:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.360G>A
  hgvsp: ENST00000324554.5:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.360G>A
  hgvsp: ENST00000594190.1:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.168G>A
  hgvsp: ENST00000431146.2:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1164G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.338G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.528G>A
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln120Gln
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

19-17373652-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373652
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373652
    reference: chr 19
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.351T>C
  hgvsp: ENST00000594190.1:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.351T>C
  hgvsp: ENST00000252597.3:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.519T>C
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.329T>C
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.159T>C
  hgvsp: ENST00000431146.2:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.351T>C
  hgvsp: ENST00000324554.5:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1155T>C
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12372
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp117Asp
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

19-17373655-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373655
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373655
    reference: chr 19
allele count: 3
allele frequency: 2.485789569626966e-5
allele num: 120686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.516C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1152C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.156C>T
  hgvsp: ENST00000431146.2:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.348C>T
  hgvsp: ENST00000252597.3:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.348C>T
  hgvsp: ENST00000594190.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.326C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.348C>T
  hgvsp: ENST00000324554.5:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro116Pro
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

19-17373659-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373659
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373659
    reference: chr 19
allele count: 1
allele frequency: 8.297102651754007e-6
allele num: 120524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.512C>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.152C>A
  hgvsp: ENSP00000407902.2:p.Ala51Asp
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.344C>A
  hgvsp: ENSP00000473108.1:p.Ala115Asp
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1148C>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.344C>A
  hgvsp: ENSP00000252597.2:p.Ala115Asp
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.344C>A
  hgvsp: ENSP00000324174.5:p.Ala115Asp
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.322C>A
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4305
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala115Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

19-17373664-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373664
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373664
    reference: chr 19
allele count: 2
allele frequency: 1.663174001264012e-5
allele num: 120252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.339T>C
  hgvsp: ENST00000594190.1:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.147T>C
  hgvsp: ENST00000431146.2:c.147T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.339T>C
  hgvsp: ENST00000252597.3:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.507T>C
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.317T>C
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.339T>C
  hgvsp: ENST00000324554.5:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1143T>C
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6544
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3751
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4304
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn113Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-17373665-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373665
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373665
    reference: chr 19
allele count: 1
allele frequency: 8.320852055250457e-6
allele num: 120180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.506A>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1142A>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.338A>G
  hgvsp: ENSP00000252597.2:p.Asn113Ser
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.316A>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.146A>G
  hgvsp: ENSP00000407902.2:p.Asn49Ser
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.338A>G
  hgvsp: ENSP00000324174.5:p.Asn113Ser
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.338A>G
  hgvsp: ENSP00000473108.1:p.Asn113Ser
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9304
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3749
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn113Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

19-17373679-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373679
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373679
    reference: chr 19
allele count: 2
allele frequency: 1.6787255115916e-5
allele num: 119138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.132T>A
  hgvsp: ENST00000431146.2:c.132T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1128T>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.302T>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.324T>A
  hgvsp: ENST00000324554.5:c.324T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.324T>A
  hgvsp: ENST00000594190.1:c.324T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.324T>A
  hgvsp: ENST00000252597.3:c.324T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.492T>A
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9304
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr108Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

19-17373685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373685
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373685
    reference: chr 19
allele count: 18
allele frequency: 1.51955156344972e-4
allele num: 118456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.126G>A
  hgvsp: ENST00000431146.2:c.126G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.318G>A
  hgvsp: ENST00000324554.5:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1122G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.318G>A
  hgvsp: ENST00000252597.3:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.296G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.318G>A
  hgvsp: ENST00000594190.1:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.486G>A
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14864
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15760
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9318
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys106Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

19-17373693-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373693
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373693
    reference: chr 19
allele count: 1
allele frequency: 8.502389171357152e-6
allele num: 117614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.310C>T
  hgvsp: ENSP00000473108.1:p.Gln104Ter
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.310C>T
  hgvsp: ENSP00000324174.5:p.Gln104Ter
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.310C>T
  hgvsp: ENSP00000252597.2:p.Gln104Ter
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.118C>T
  hgvsp: ENSP00000407902.2:p.Gln40Ter
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.288C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.478C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1114C>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln104Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

19-17373701-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373701
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373701
    reference: chr 19
allele count: 1
allele frequency: 8.599191675982458e-6
allele num: 116290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.302C>G
  hgvsp: ENSP00000324174.5:p.Ala101Gly
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.302C>G
  hgvsp: ENSP00000252597.2:p.Ala101Gly
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.280C>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.110C>G
  hgvsp: ENSP00000407902.2:p.Ala37Gly
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1106C>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.302C>G
  hgvsp: ENSP00000473108.1:p.Ala101Gly
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.470C>G
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala101Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

19-17373706-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373706
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373706
    reference: chr 19
allele count: 64
allele frequency: 5.546023327960624e-4
allele num: 115398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.297A>C
  hgvsp: ENST00000324554.5:c.297A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1101A>C
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.297A>C
  hgvsp: ENST00000252597.3:c.297A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.297A>C
  hgvsp: ENST00000594190.1:c.297A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.105A>C
  hgvsp: ENST00000431146.2:c.105A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.465A>C
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.275A>C
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13474
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12172
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15225
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Pro99Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

19-17373720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373720
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373720
    reference: chr 19
allele count: 1
allele frequency: 8.782098570274352e-6
allele num: 113868
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.283G>A
  hgvsp: ENSP00000252597.2:p.Ala95Thr
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.451G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.261G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.283G>A
  hgvsp: ENSP00000473108.1:p.Ala95Thr
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.283G>A
  hgvsp: ENSP00000324174.5:p.Ala95Thr
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.91G>A
  hgvsp: ENSP00000407902.2:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1087G>A
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala95Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

19-17373731-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373731
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373731
    reference: chr 19
allele count: 2
allele frequency: 1.774717376257831e-5
allele num: 112694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.440C>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.272C>A
  hgvsp: ENSP00000473108.1:p.Pro91His
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.80C>A
  hgvsp: ENSP00000407902.2:p.Pro27His
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.250C>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.272C>A
  hgvsp: ENSP00000252597.2:p.Pro91His
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.272C>A
  hgvsp: ENSP00000324174.5:p.Pro91His
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1076C>A
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2867
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro91His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

19-17373741-GCAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373741
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373738
    reference: chr 19
allele count: 1
allele frequency: 9.008684371734351e-6
allele num: 111004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.427_429delGTG
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1063_*1065delGTG
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.259_261delGTG
  hgvsp: ENSP00000473108.1:p.Val87del
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.259_261delGTG
  hgvsp: ENSP00000324174.5:p.Val87del
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.237_239delGTG
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.67_69delGTG
  hgvsp: ENSP00000407902.2:p.Val23del
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.259_261delGTG
  hgvsp: ENSP00000252597.2:p.Val87del
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14906
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val87del
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: GCAC
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

19-17373742-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373742
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373742
    reference: chr 19
allele count: 2
allele frequency: 1.802158986465786e-5
allele num: 110978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1065G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.69G>A
  hgvsp: ENST00000431146.2:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.261G>A
  hgvsp: ENST00000594190.1:c.261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.239G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.261G>A
  hgvsp: ENST00000252597.3:c.261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.429G>A
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.261G>A
  hgvsp: ENST00000324554.5:c.261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19265
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val87Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

19-17373744-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373744
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373745
    reference: chr 19
allele count: 3
allele frequency: 2.712330253331646e-5
allele num: 110606
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.66dupA
  hgvsp: ENSP00000407902.2:p.Val23SerfsTer103
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1062dupA
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.258dupA
  hgvsp: ENSP00000324174.5:p.Val87SerfsTer103
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.258dupA
  hgvsp: ENSP00000252597.2:p.Val87SerfsTer103
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.426dupA
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.258dupA
  hgvsp: ENSP00000473108.1:p.Val87SerfsTer?
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.236dupA
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5092
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val87SerfsTer103
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

19-17373746-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373746
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373746
    reference: chr 19
allele count: 1
allele frequency: 9.043880910176176e-6
allele num: 110572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.235A>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.425A>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.257A>G
  hgvsp: ENSP00000324174.5:p.Glu86Gly
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.65A>G
  hgvsp: ENSP00000407902.2:p.Glu22Gly
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.257A>G
  hgvsp: ENSP00000473108.1:p.Glu86Gly
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.257A>G
  hgvsp: ENSP00000252597.2:p.Glu86Gly
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1061A>G
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9316
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu86Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

19-17373748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373748
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373748
    reference: chr 19
allele count: 7
allele frequency: 6.344717569429337e-5
allele num: 110328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.255C>T
  hgvsp: ENST00000252597.3:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.233C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.255C>T
  hgvsp: ENST00000324554.5:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.255C>T
  hgvsp: ENST00000594190.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.63C>T
  hgvsp: ENST00000431146.2:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.423C>T
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1059C>T
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14833
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9321
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro85Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

19-17373748-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17373748
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17373748
    reference: chr 19
allele count: 1
allele frequency: 9.063882242041912e-6
allele num: 110328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000595993
  gene symbol: USHBP1
  hgvsc: ENST00000595993.1:n.423C>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000473108
  ensembl transcript: ENST00000594190
  gene symbol: USHBP1
  hgvsc: ENST00000594190.1:c.255C>G
  hgvsp: ENST00000594190.1:c.255C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000324174
  ensembl transcript: ENST00000324554
  gene symbol: USHBP1
  hgvsc: ENST00000324554.5:c.255C>G
  hgvsp: ENST00000324554.5:c.255C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000407902
  ensembl transcript: ENST00000431146
  gene symbol: USHBP1
  hgvsc: ENST00000431146.2:c.63C>G
  hgvsp: ENST00000431146.2:c.63C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000252597
  ensembl transcript: ENST00000252597
  gene symbol: USHBP1
  hgvsc: ENST00000252597.3:c.255C>G
  hgvsp: ENST00000252597.3:c.255C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130307
  ensembl transcript: ENST00000598570
  gene symbol: USHBP1
  hgvsc: ENST00000598570.1:n.233C>G
  variant of: http://identifiers.org/hgnc/24058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130307
  ensembl protein: ENSP00000469562
  ensembl transcript: ENST00000597928
  gene symbol: USHBP1
  hgvsc: ENST00000597928.1:c.*1059C>G
  variant of: http://identifiers.org/hgnc/24058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5091
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3698
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro85Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9280
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 59
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4318
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.062318174858368e-5
allele num: 65310
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.818012566907144e-4
allele num: 8594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

QD
type: SiteQuality
SIO_000300: 1.112e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.055e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 1.799719e6

GenotypeQuality
all individuals: 4312
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5149
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7821
bin: 6.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52597204419215e-5
allele num: 65532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 3.796e0

DP
type: SiteQuality
SIO_000300: 1.802042e6

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.167e0

QD
type: SiteQuality
SIO_000300: 9.300000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e0

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

MQ
type: SiteQuality
SIO_000300: 5.904e1

GenotypeQuality
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5146
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4308
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.745074117001159e-4
allele num: 65572
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.357e1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 1.802861e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

FS
type: SiteQuality
SIO_000300: 1.799e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 5146
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2989
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9293
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.05008235222351e-5
allele num: 65572
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.357e1

FS
type: SiteQuality
SIO_000300: 1.799e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 1.802861e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5119
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7688
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9325
bin: 9.75e1
variant carriers: 58

GenotypeQuality
all individuals: 2987
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22741
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.544077552256892e-4
allele num: 6602
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 55
allele frequency: 8.388494036543331e-4
allele num: 65566
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.494e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.80527e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.72e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 191
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4300
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.996007984031936e-4
allele num: 10020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.72e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

QD
type: SiteQuality
SIO_000300: 1.494e1

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

DP
type: SiteQuality
SIO_000300: 1.80527e6

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3736
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4304
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2993
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.962143853357243e-5
allele num: 10038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.574425909548352e-5
allele num: 65582
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.62e0

QD
type: SiteQuality
SIO_000300: 1.249e1

MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 1.803131e6

GenotypeQuality
all individuals: 194
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9293
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 22631
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3736
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7690
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21300339640951e-4
allele num: 16488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65582
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

VQSLOD
type: SiteQuality
SIO_000300: 3.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.803131e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.94e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

GenotypeQuality
all individuals: 22812
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3748
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65676
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.818843215714805e-4
allele num: 16494
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.016e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.99e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.319e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.16e-1

DP
type: SiteQuality
SIO_000300: 1.802316e6

QD
type: SiteQuality
SIO_000300: 1.17e1

GenotypeQuality
all individuals: 205
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4307
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9288
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22769
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.277e0

QD
type: SiteQuality
SIO_000300: 7.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 7.937e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.762e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.29e-1

DP
type: SiteQuality
SIO_000300: 1.802583e6

GenotypeQuality
all individuals: 9288
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5130
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22899
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4306
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.887284951552304e-5
allele num: 10114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.528e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 6.629e0

VQSLOD
type: SiteQuality
SIO_000300: 6.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

DP
type: SiteQuality
SIO_000300: 1.802825e6

GenotypeQuality
all individuals: 22990
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3752
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4309
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5122
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.562737642585552e-5
allele num: 65750
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.879470460383324e-5
allele num: 10122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.804306e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.299e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-1

FS
type: SiteQuality
SIO_000300: 5.023e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

GenotypeQuality
all individuals: 2993
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7743
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5118
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.119927040583675e-5
allele num: 65790
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.971220185294697e-4
allele num: 10146
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.544077552256892e-4
allele num: 6602
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

QD
type: SiteQuality
SIO_000300: 1.465e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.806041e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7767
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5131
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65846
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 4.19e0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

FS
type: SiteQuality
SIO_000300: 3.63e0

DP
type: SiteQuality
SIO_000300: 1.806371e6

MQRankSum
type: SiteQuality
SIO_000300: -2.8e0

MQ
type: SiteQuality
SIO_000300: 5.11e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23389
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4315
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7769
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.818e1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.806441e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

GenotypeQuality
all individuals: 2990
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9307
bin: 9.75e1
variant carriers: 20

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.968503937007874e-4
allele num: 10160
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.963788300835655e-4
allele num: 8616
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.672342495743128e-4
allele num: 65776
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 1.807241e6

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5126
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23052
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3759
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7753
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
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: 8612
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.040992579978105e-5
allele num: 65768
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

QD
type: SiteQuality
SIO_000300: 1.326e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.807273e6

MQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

GenotypeQuality
all individuals: 125
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9297
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 200
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7753
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 8.75e1
variant carriers: 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: 10156
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.216397031991242e-4
allele num: 65768
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

DP
type: SiteQuality
SIO_000300: 1.807273e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

MQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.326e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3770
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5133
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9295
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23065
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.854158454867954e-5
allele num: 10148
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65778
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.423654871546292e-4
allele num: 16504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.162e0

QD
type: SiteQuality
SIO_000300: 8.94e0

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

DP
type: SiteQuality
SIO_000300: 1.807964e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.717e0

FS
type: SiteQuality
SIO_000300: 1.4824e1

VQSLOD
type: SiteQuality
SIO_000300: -2.107e0

GenotypeQuality
all individuals: 5140
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9291
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3775
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7804
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2991
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2144
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518879674352198e-5
allele num: 65838
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.505e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 1.808935e6

FS
type: SiteQuality
SIO_000300: 1.9327e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.08e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5151
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
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GenotypeQuality
all individuals: 3792
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.956564273136372e-4
allele num: 10222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66016
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.188e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.204e0

FS
type: SiteQuality
SIO_000300: 1.164e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.12e-1

DP
type: SiteQuality
SIO_000300: 1.815432e6

GenotypeQuality
all individuals: 5151
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2993
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66016
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.029201502483945e-4
allele num: 16506
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.204e0

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

DP
type: SiteQuality
SIO_000300: 1.815432e6

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 1.164e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.188e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 6
allele frequency: 9.078254554257701e-5
allele num: 66092
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

Other
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allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

MQRankSum
type: SiteQuality
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QD
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DP
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8624
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-1

ClippingRankSum
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QD
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FS
type: SiteQuality
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 16

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 11
allele frequency: 1.070455430128455e-3
allele num: 10276
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66196
num of homozygotes: 0

Latino
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allele count: 5
allele frequency: 4.322268326417704e-4
allele num: 11568
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.2e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.51e-1

DP
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SIO_000300: 1.823799e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10330
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507658907248824e-5
allele num: 66328
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.396e0

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.076e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.845e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

FS
type: SiteQuality
SIO_000300: 1.2466e1

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.013409673045051e-5
allele num: 66370
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 3.232e0

MQRankSum
type: SiteQuality
SIO_000300: -3.76e-1

DP
type: SiteQuality
SIO_000300: 1.82841e6

QD
type: SiteQuality
SIO_000300: 1.104e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506704836522525e-5
allele num: 66370
num of homozygotes: 0

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

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

South Asian
type: Population
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: 8636
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.82841e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
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East Asian
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allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.667440061871617e-5
allele num: 10344
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South Asian
type: Population
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Other
type: Population
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allele num: 906
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66384
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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African
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South Asian
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allele frequency: 2.422480620155039e-4
allele num: 16512
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Latino
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66384
num of homozygotes: 0

FS
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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African
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East Asian
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allele num: 8640
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Other
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allele num: 906
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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DP
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.01313727853441e-5
allele num: 66376
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Latino
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allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
type: Population
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Other
type: Population
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allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 1.101e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

VQSLOD
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DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506432466632521e-5
allele num: 66382
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.259e0

MQRankSum
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VQSLOD
type: SiteQuality
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QD
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8642
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
allele num: 906
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African
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allele count: 2
allele frequency: 1.936483346243222e-4
allele num: 10328
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66362
num of homozygotes: 0

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

FS
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.94e-1

DP
type: SiteQuality
SIO_000300: 1.827175e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507159005275056e-5
allele num: 66350
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8642
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10328
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.411e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

QD
type: SiteQuality
SIO_000300: 6.44e0

DP
type: SiteQuality
SIO_000300: 1.826689e6

FS
type: SiteQuality
SIO_000300: 1.307e0

MQ
type: SiteQuality
SIO_000300: 5.825e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66336
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.734e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 1.807e0

DP
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SIO_000300: 1.825317e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.496e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.97e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 59
allele frequency: 8.895992280088056e-4
allele num: 66322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
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allele count: 12
allele frequency: 1.036985827860353e-3
allele num: 11572
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.701202949165696e-5
allele num: 10308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.559721802237678e-4
allele num: 6614
num of homozygotes: 0

South Asian
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allele count: 13
allele frequency: 7.873062015503876e-4
allele num: 16512
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 1.107e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.523795162555039e-5
allele num: 66316
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.871e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.550970873786408e-5
allele num: 65920
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
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African
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allele count: 0
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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FS
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.515978412467406e-5
allele num: 65964
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African
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East Asian
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allele count: 0
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allele num: 8634
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Latino
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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: 16510
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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ClippingRankSum
type: SiteQuality
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VQSLOD
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QD
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BaseQRankSum
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FS
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66120
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Latino
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allele num: 11560
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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African
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 904
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South Asian
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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ClippingRankSum
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QD
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66078
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Other
type: Population
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allele num: 900
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.49e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 2.42306760358614e-4
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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Other
type: Population
allele count: 0
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allele num: 902
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Latino
type: Population
allele count: 0
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allele num: 11552
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African
type: Population
allele count: 1
allele frequency: 9.817396426467701e-5
allele num: 10186
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

QD
type: SiteQuality
SIO_000300: 1.267e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.972e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

DP
type: SiteQuality
SIO_000300: 1.804049e6

MQ
type: SiteQuality
SIO_000300: 5.985e1

GenotypeQuality
all individuals: 2113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4266
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3709
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2953
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516162290011523e-5
allele num: 65956
num of homozygotes: 0

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

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.807641e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.849e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9308
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7834
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2962
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510072181450273e-5
allele num: 66222
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.820826e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

FS
type: SiteQuality
SIO_000300: 3.729e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.504e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

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

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4310
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7837
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2962
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66232
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.588e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.2377e1

DP
type: SiteQuality
SIO_000300: 1.821857e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.843e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e0

QD
type: SiteQuality
SIO_000300: 9.9e0

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9307
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5136
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24481
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2961
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4309
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66320
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

DP
type: SiteQuality
SIO_000300: 1.825367e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.646e1

MQ
type: SiteQuality
SIO_000300: 5.904e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e0

FS
type: SiteQuality
SIO_000300: 3.321e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

MQRankSum
type: SiteQuality
SIO_000300: -1.419e0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9306
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4310
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7870
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66328
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.8257e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: -1.839e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 9.91e0

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.398e0

QD
type: SiteQuality
SIO_000300: 1.283e1

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9307
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 5141
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4309
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2961
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66334
num of homozygotes: 0

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

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

African
type: Population
allele count: 4
allele frequency: 3.883495145631068e-4
allele num: 10300
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

FS
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.825944e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: -2.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.8e0

QD
type: SiteQuality
SIO_000300: 1.459e1

GenotypeQuality
all individuals: 2960
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9310
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24529
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3784
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4311
bin: 8.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 7
allele frequency: 8.096229470275272e-4
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506477854775535e-5
allele num: 66380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.343e0

DP
type: SiteQuality
SIO_000300: 1.826994e6

QD
type: SiteQuality
SIO_000300: 1.456e1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2962
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4308
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7872
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9307
bin: 9.75e1
variant carriers: 4

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.024822267743102e-5
allele num: 66392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.491e0

MQRankSum
type: SiteQuality
SIO_000300: 9.86e-1

FS
type: SiteQuality
SIO_000300: 5.294e0

VQSLOD
type: SiteQuality
SIO_000300: 5.4e-1

DP
type: SiteQuality
SIO_000300: 1.826954e6

QD
type: SiteQuality
SIO_000300: 1.363e1

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2961
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9307
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7878
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.696e0

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

QD
type: SiteQuality
SIO_000300: 1.309e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 3.176e0

DP
type: SiteQuality
SIO_000300: 1.827077e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.45e-1

GenotypeQuality
all individuals: 7883
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24599
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4310
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9305
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2962
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3775
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66414
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.688044952528579e-5
allele num: 10322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.57e-1

QD
type: SiteQuality
SIO_000300: 1.23e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.24e-1

DP
type: SiteQuality
SIO_000300: 1.827112e6

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505615947484116e-5
allele num: 66418
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.784e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

QD
type: SiteQuality
SIO_000300: 1.068e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.295e0

DP
type: SiteQuality
SIO_000300: 1.826507e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506069459923492e-5
allele num: 66398
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.792e0

DP
type: SiteQuality
SIO_000300: 1.822711e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e0

FS
type: SiteQuality
SIO_000300: 3.22e0

MQRankSum
type: SiteQuality
SIO_000300: 9.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.396e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.412e0

QD
type: SiteQuality
SIO_000300: 1.37e1

MQ
type: SiteQuality
SIO_000300: 5.837e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.2306177701206e-4
allele num: 16252
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506024096385542e-5
allele num: 66400
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

DP
type: SiteQuality
SIO_000300: 1.82185e6

FS
type: SiteQuality
SIO_000300: 1.176e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 7793
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.200396825396825e-5
allele num: 16128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66364
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

QD
type: SiteQuality
SIO_000300: 8.289999999999999e0

DP
type: SiteQuality
SIO_000300: 1.819112e6

MQRankSum
type: SiteQuality
SIO_000300: 7.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.740000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.274e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
all individuals: 23534
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.282985674792661e-5
allele num: 15916
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66310
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 1.814533e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.133e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e0

QD
type: SiteQuality
SIO_000300: 1.398e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66286
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.30119722747322e-5
allele num: 15870
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.628e1

DP
type: SiteQuality
SIO_000300: 1.813346e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

MQRankSum
type: SiteQuality
SIO_000300: -1.788e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.153e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.778e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66028
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

FS
type: SiteQuality
SIO_000300: 4.34e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.668e0

VQSLOD
type: SiteQuality
SIO_000300: -3.276e0

DP
type: SiteQuality
SIO_000300: 1.797009e6

QD
type: SiteQuality
SIO_000300: 2.523e1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65850
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 15
allele frequency: 1.737720111214087e-3
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.048900423439421e-4
allele num: 14642
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.51e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.295e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.015e0

VQSLOD
type: SiteQuality
SIO_000300: 2.92e0

DP
type: SiteQuality
SIO_000300: 1.789562e6

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14044
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.583e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.775321e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65288
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13152
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.331e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

FS
type: SiteQuality
SIO_000300: 8.252000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.314e0

DP
type: SiteQuality
SIO_000300: 1.761837e6

QD
type: SiteQuality
SIO_000300: 1.476e1

VQSLOD
type: SiteQuality
SIO_000300: -5.966e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 63

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12568
num of homozygotes: 0

African
type: Population
allele count: 63
allele frequency: 6.176470588235294e-3
allele num: 10200
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 1.762804e6

FS
type: SiteQuality
SIO_000300: 1.106e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.601e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547316952404531e-5
allele num: 64628
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 1.743e0

DP
type: SiteQuality
SIO_000300: 1.746554e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.805e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 1.023e1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.110516656816698e-5
allele num: 64298
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: 820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10758
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10134
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MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.046e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 1.678e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.73636e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.082e0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
all individuals: 206
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 283
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variant carriers: 0

GenotypeQuality
all individuals: 4295
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.565582240035069e-5
allele num: 63874
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.817e1

MQRankSum
type: SiteQuality
SIO_000300: -6.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

FS
type: SiteQuality
SIO_000300: 3.812e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

QD
type: SiteQuality
SIO_000300: 7.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.095e0

DP
type: SiteQuality
SIO_000300: 1.721376e6

GenotypeQuality
all individuals: 1935
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
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: 794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.131850923896023e-5
allele num: 63860
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.988e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.379e0

VQSLOD
type: SiteQuality
SIO_000300: -5.491e-1

FS
type: SiteQuality
SIO_000300: 1.04e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e0

QD
type: SiteQuality
SIO_000300: 1.057e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.421e0

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

DP
type: SiteQuality
SIO_000300: 1.721372e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.707359171504786e-5
allele num: 63730
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

DP
type: SiteQuality
SIO_000300: 1.718156e6

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.011e1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 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: 792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.062699256110521e-4
allele num: 9410
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ClippingRankSum
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BaseQRankSum
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

FS
type: SiteQuality
SIO_000300: 1.1808e1

GenotypeQuality
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variant carriers: 0

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

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

Other
type: Population
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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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num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172607879924953e-4
allele num: 8528
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.00801282051282e-4
allele num: 9984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.570795765134617e-5
allele num: 63662
num of homozygotes: 0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.38e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.186e1

MQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.01e-1

GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172607879924953e-4
allele num: 8528
num of homozygotes: 0