17-26911149-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911149
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911149
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.627+19G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19920G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*203+19G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.262+19G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2412+19G>A
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

17-26911158-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911158
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911158
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*203+10A>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.627+10A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2412+10A>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.262+10A>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19911A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 976
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49565
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

17-26911164-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911164
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911164
    reference: chr 17
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2412+4A>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*203+4A>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19905A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.262+4A>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.627+4A>G
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1880
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 49565
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: c.2412+4A>G
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

17-26911186-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911186
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911186
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*185C>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2394C>T
  hgvsp: ENST00000321765.5:c.2394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19883C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.609C>T
  hgvsp: ENST00000531839.1:c.609C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.244C>T
  hgvsp: ENST00000378976.5:c.244C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49566
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp798Asp
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

17-26911189-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911189
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911189
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*182G>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.606G>C
  hgvsp: ENST00000531839.1:c.606G>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19880G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.241G>C
  hgvsp: ENST00000378976.5:c.241G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2391G>C
  hgvsp: ENST00000321765.5:c.2391G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49566
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg797Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

17-26911191-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911191
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911191
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.604C>T
  hgvsp: ENSP00000431165.1:p.Arg202Trp
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*180C>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.239C>T
  hgvsp: ENSP00000466021.1:p.Arg81Trp
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2389C>T
  hgvsp: ENSP00000323300.5:p.Arg797Trp
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19878C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg797Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

17-26911191-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911191
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911192
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19877dupG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.238dupG
  hgvsp: ENSP00000466021.1:p.Arg81AlafsTer25
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*179dupG
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2388dupG
  hgvsp: ENSP00000323300.5:p.Arg797AlafsTer25
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.603dupG
  hgvsp: ENSP00000431165.1:p.Arg202AlafsTer25
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg202AlafsTer25
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

17-26911200-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911200
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911200
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.230A>G
  hgvsp: ENSP00000466021.1:p.Lys78Glu
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19869A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2380A>G
  hgvsp: ENSP00000323300.5:p.Lys794Glu
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*171A>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.595A>G
  hgvsp: ENSP00000431165.1:p.Lys199Glu
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys794Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

17-26911204-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911204
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911204
    reference: chr 17
allele count: 1406
allele frequency: 1.15804039139459e-2
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19865G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2376G>A
  hgvsp: ENST00000321765.5:c.2376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.226G>A
  hgvsp: ENST00000378976.5:c.226G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*167G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.591G>A
  hgvsp: ENST00000531839.1:c.591G>A(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 9.75e1
  variant carriers: 1310
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 9.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49721
  bin: 9.75e1
  variant carriers: 1383
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu792Leu
num of homozygotes: 23
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

17-26911208-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911208
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911208
    reference: chr 17
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.587T>C
  hgvsp: ENSP00000431165.1:p.Val196Ala
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2372T>C
  hgvsp: ENSP00000323300.5:p.Val791Ala
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19861T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*163T>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.222T>C
  hgvsp: ENSP00000466021.1:p.Val75Ala
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49540
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val791Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

17-26911213-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911213
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911213
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*158A>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.582A>G
  hgvsp: ENST00000531839.1:c.582A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19856A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.217A>G
  hgvsp: ENST00000378976.5:c.217A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2367A>G
  hgvsp: ENST00000321765.5:c.2367A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln789Gln
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

17-26911215-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911215
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911215
    reference: chr 17
allele count: 112
allele frequency: 9.224940284984762e-4
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2365C>A
  hgvsp: ENSP00000323300.5:p.Gln789Lys
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*156C>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.215C>A
  hgvsp: ENSP00000466021.1:p.Gln73Lys
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.580C>A
  hgvsp: ENSP00000431165.1:p.Gln194Lys
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19854C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 9.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln789Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum

17-26911218-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911218
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911218
    reference: chr 17
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*153C>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.577C>A
  hgvsp: ENSP00000431165.1:p.Gln193Lys
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19851C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.212C>A
  hgvsp: ENSP00000466021.1:p.Gln72Lys
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2362C>A
  hgvsp: ENSP00000323300.5:p.Gln788Lys
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 967
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49528
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln788Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

17-26911225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911225
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911225
    reference: chr 17
allele count: 10
allele frequency: 8.23641814647646e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*146G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.570G>A
  hgvsp: ENST00000531839.1:c.570G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.205G>A
  hgvsp: ENST00000378976.5:c.205G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19844G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2355G>A
  hgvsp: ENST00000321765.5:c.2355G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu785Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

17-26911232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911232
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911232
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19837C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*139C>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.563C>T
  hgvsp: ENSP00000431165.1:p.Ala188Val
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2348C>T
  hgvsp: ENSP00000323300.5:p.Ala783Val
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.198C>T
  hgvsp: ENSP00000466021.1:p.Ala67Val
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala783Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

17-26911233-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911233
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911233
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19836G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2347G>A
  hgvsp: ENSP00000323300.5:p.Ala783Thr
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.562G>A
  hgvsp: ENSP00000431165.1:p.Ala188Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.197G>A
  hgvsp: ENSP00000466021.1:p.Ala67Thr
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*138G>A
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala783Thr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

17-26911242-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911242
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911242
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2338C>T
  hgvsp: ENSP00000323300.5:p.His780Tyr
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.188C>T
  hgvsp: ENSP00000466021.1:p.His64Tyr
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*129C>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19827C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.553C>T
  hgvsp: ENSP00000431165.1:p.His185Tyr
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His780Tyr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-26911244-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911244
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911244
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2336A>C
  hgvsp: ENSP00000323300.5:p.Lys779Thr
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19825A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.186A>C
  hgvsp: ENSP00000466021.1:p.Lys63Thr
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.551A>C
  hgvsp: ENSP00000431165.1:p.Lys184Thr
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*127A>C
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49527
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys779Thr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/17-26911251-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911251
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911251
    reference: chr 17
allele count: 12
allele frequency: 9.883701775771753e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*120G>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.544G>T
  hgvsp: ENSP00000431165.1:p.Ala182Ser
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19818G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2329G>T
  hgvsp: ENSP00000323300.5:p.Ala777Ser
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.179G>T
  hgvsp: ENSP00000466021.1:p.Ala61Ser
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala777Ser
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-26911252-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911252
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911252
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*119G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.543G>A
  hgvsp: ENSP00000431165.1:p.Met181Ile
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2328G>A
  hgvsp: ENSP00000323300.5:p.Met776Ile
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.178G>A
  hgvsp: ENSP00000466021.1:p.Met60Ile
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19817G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met776Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-26911253-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911253
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911253
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.542T>C
  hgvsp: ENSP00000431165.1:p.Met181Thr
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2327T>C
  hgvsp: ENSP00000323300.5:p.Met776Thr
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*118T>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19816T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.177T>C
  hgvsp: ENSP00000466021.1:p.Met60Thr
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met776Thr
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

17-26911258-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911258
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911258
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2322A>G
  hgvsp: ENST00000321765.5:c.2322A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.537A>G
  hgvsp: ENST00000531839.1:c.537A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*113A>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.172A>G
  hgvsp: ENST00000378976.5:c.172A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19811A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu774Glu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

17-26911267-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911267
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911267
    reference: chr 17
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*104G>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.528G>C
  hgvsp: ENSP00000431165.1:p.Trp176Cys
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19802G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2313G>C
  hgvsp: ENSP00000323300.5:p.Trp771Cys
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.163G>C
  hgvsp: ENSP00000466021.1:p.Trp55Cys
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Trp771Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-26911285-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911285
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911285
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19784T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-15T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2310-15T>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.160-15T>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*101-15T>C
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

17-26911295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911295
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911295
    reference: chr 17
allele count: 31
allele frequency: 2.553331686022568e-4
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-25G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19774G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*101-25G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2310-25G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.160-25G>A
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-26911299-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911299
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911299
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-29A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19770A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*101-29A>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.160-29A>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2310-29A>G
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

17-26911312-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911312
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911312
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*100+39G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.159+39G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19757G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2309+39G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-42G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

17-26911329-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911329
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911329
    reference: chr 17
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2309+22G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19740G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-59G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.159+22G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*100+22G>A
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49519
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-26911333-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911333
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911333
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-63T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2309+18T>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19736T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*100+18T>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.159+18T>C
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49520
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

17-26911334-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911334
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911334
    reference: chr 17
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.159+17G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*100+17G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19735G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-64G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2309+17G>A
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1484
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

17-26911337-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911337
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911337
    reference: chr 17
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*100+14G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.159+14G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-67G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19732G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2309+14G>A
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49519
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

17-26911338-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911338
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911338
    reference: chr 17
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-68C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19731C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*100+13C>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2309+13C>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.159+13C>T
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-26911340-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911340
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911340
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2309+11A>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*100+11A>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.159+11A>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19729A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-70A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

17-26911342-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911342
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911342
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-72C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19727C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*100+9C>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2309+9C>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.159+9C>T
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

17-26911346-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911346
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911346
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.159+5G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*100+5G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-76G>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2309+5G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19723G>A
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49517
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: c.2309+5G>A
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

17-26911368-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911368
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911368
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19701T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-98T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2292T>C
  hgvsp: ENST00000321765.5:c.2292T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.142T>C
  hgvsp: ENST00000378976.5:c.142T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*83T>C
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49517
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn764Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

17-26911375-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911375
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911375
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19694A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2285A>G
  hgvsp: ENSP00000323300.5:p.Gln762Arg
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-105A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.135A>G
  hgvsp: ENSP00000466021.1:p.Gln46Arg
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*76A>G
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln762Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-26911389-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911389
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911389
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.121C>A
  hgvsp: ENST00000378976.5:c.121C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-119C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19680C>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2271C>A
  hgvsp: ENST00000321765.5:c.2271C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*62C>A
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49516
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu757Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

17-26911406-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911406
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911406
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-136A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.104A>T
  hgvsp: ENSP00000466021.1:p.Met36Leu
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19663A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2254A>T
  hgvsp: ENSP00000323300.5:p.Met752Leu
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*45A>T
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49516
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met752Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-26911425-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911425
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911425
    reference: chr 17
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2235T>C
  hgvsp: ENST00000321765.5:c.2235T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*26T>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-155T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19644T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.85T>C
  hgvsp: ENST00000378976.5:c.85T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49515
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His745His
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

17-26911438-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911438
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911438
    reference: chr 17
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19631G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2222G>A
  hgvsp: ENSP00000323300.5:p.Ser741Asn
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*13G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.72G>A
  hgvsp: ENSP00000466021.1:p.Ser25Asn
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-168G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser741Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

17-26911442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911442
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911442
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2218C>T
  hgvsp: ENSP00000323300.5:p.Gln740Ter
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.68C>T
  hgvsp: ENSP00000466021.1:p.Gln24Ter
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-172C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19627C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*9C>T
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln740Ter
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-26911449-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911449
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911449
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.*2A>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.710A>G
  hgvsp: ENST00000584206.1:c.710A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.61A>G
  hgvsp: ENST00000378976.5:c.61A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-179A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19620A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2211A>G
  hgvsp: ENST00000321765.5:c.2211A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys737Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

17-26911450-T-TTTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911450
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911453
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: TTTA
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2207_2209dupTAA
  hgvsp: ENSP00000323300.5:p.Leu736_Lys737insIle
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.388_390dupTAA
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.706_708dupTAA
  hgvsp: ENSP00000463095.1:p.Leu236_Lys237insIle
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-183_525-181dupTAA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.57_59dupTAA
  hgvsp: ENSP00000466021.1:p.Leu20_Lys21insIle
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19616_*1195+19618dupTAA
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu736_Lys737insIle
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-26911466-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911466
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911466
    reference: chr 17
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.44A>G
  hgvsp: ENSP00000466021.1:p.Met16Val
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.693A>G
  hgvsp: ENSP00000463095.1:p.Met232Val
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-196A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.375A>G
  hgvsp: ENST00000580083.2:c.375A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2194A>G
  hgvsp: ENSP00000323300.5:p.Met732Val
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19603A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49515
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met732Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

17-26911492-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911492
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911492
    reference: chr 17
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19577G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.667G>A
  hgvsp: ENSP00000463095.1:p.Arg223Gln
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.18G>A
  hgvsp: ENSP00000466021.1:p.Arg7Gln
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2168G>A
  hgvsp: ENSP00000323300.5:p.Arg723Gln
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-222G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.349G>A
  hgvsp: ENSP00000464474.2:p.Gly117Arg
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg723Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

17-26911493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911493
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911493
    reference: chr 17
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.348C>T
  hgvsp: ENST00000580083.2:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-223C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19576C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2167C>T
  hgvsp: ENSP00000323300.5:p.Arg723Trp
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.17C>T
  hgvsp: ENSP00000466021.1:p.Arg7Trp
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.666C>T
  hgvsp: ENSP00000463095.1:p.Arg223Trp
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49513
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg723Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

17-26911516-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911516
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911516
    reference: chr 17
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-18A>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.661-18A>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19553A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.12-18A>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2162-18A>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-246A>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-26911522-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911522
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911522
    reference: chr 17
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19547G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-252G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-24G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.661-24G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.12-24G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2162-24G>A
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-26911524-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911524
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911524
    reference: chr 17
allele count: 3
allele frequency: 2.472147142197904e-5
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-254G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.661-26G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2162-26G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19545G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.12-26G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-26G>A
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

17-26911524-CCATGCGGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911524
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911516
    reference: chr 17
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49510
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: CCATGCGGT
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/17-26911529-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911529
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911529
    reference: chr 17
allele count: 12627
allele frequency: 1.041007123070835e-1
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.661-31G>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2162-31G>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-259G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.12-31G>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19540G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-31G>T
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 8.25e1
  variant carriers: 653
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 3.75e1
  variant carriers: 364
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 5.75e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 8.75e1
  variant carriers: 732
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 7.25e1
  variant carriers: 373
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 5.25e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 4.25e1
  variant carriers: 277
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 4.75e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 9.25e1
  variant carriers: 796
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 3.25e1
  variant carriers: 320
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 6.25e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 2.25e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 7.75e1
  variant carriers: 482
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 2.75e1
  variant carriers: 242
genotype depth: GenotypeDepth
  all individuals: 9829
  bin: 9.75e1
  variant carriers: 6405
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 6.75e1
  variant carriers: 283
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 774
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-26911529-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911529
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911529
    reference: chr 17
allele count: 3
allele frequency: 2.473288484368817e-5
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.12-31G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.661-31G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-259G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2162-31G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-31G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19540G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51438
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

17-26911530-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911530
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911530
    reference: chr 17
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-260C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.661-32C>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.12-32C>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19539C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2162-32C>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-32C>T
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49662
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

17-26911622-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911622
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911622
    reference: chr 17
allele count: 3
allele frequency: 2.487933522416281e-5
allele num: 120582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-124C>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+48C>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-352C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19447C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+48C>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+48C>T
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

17-26911623-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911623
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911623
    reference: chr 17
allele count: 2
allele frequency: 1.659090154959021e-5
allele num: 120548
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-353C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+47C>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+47C>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+47C>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-125C>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19446C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8314
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7704
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

17-26911625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911625
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911625
    reference: chr 17
allele count: 3
allele frequency: 2.484266313348791e-5
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-127G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+45G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+45G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-355G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+45G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19444G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8468
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

17-26911626-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911626
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911625
    reference: chr 17
allele count: 1
allele frequency: 8.290224167661493e-6
allele num: 120624
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+43delG
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-357delG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+43delG
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19442delG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-129delG
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+43delG
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: TC
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/17-26911628-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911628
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911628
    reference: chr 17
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19441T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-358T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-130T>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+42T>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+42T>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+42T>G
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-26911629-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911629
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911629
    reference: chr 17
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19440T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-359T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+41T>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+41T>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-131T>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+41T>G
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

17-26911633-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911633
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911633
    reference: chr 17
allele count: 1
allele frequency: 8.275405494869249e-6
allele num: 120840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+37G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-363G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+37G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-135G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+37G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19436G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7893
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28699
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

17-26911634-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911634
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911634
    reference: chr 17
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+36A>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-364A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+36A>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19435A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-136A>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+36A>T
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28574
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

17-26911638-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911638
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911638
    reference: chr 17
allele count: 54
allele frequency: 4.457652303120356e-4
allele num: 121140
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-368T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19431T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-140T>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+32T>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+32T>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+32T>C
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7956
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8193
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6239
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3682
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4296
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28728
  bin: 9.75e1
  variant carriers: 54
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/17-26911642-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911642
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911642
    reference: chr 17
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+28T>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+28T>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19427T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-372T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+28T>G
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-144T>G
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28889
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-26911647-T-TAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911649
    reference: chr 17
allele count: 621
allele frequency: 6.415819489213985e-3
allele num: 96792
alternate allele: TAC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-151_343-150dupGT
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+21_660+22dupGT
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-379_525-378dupGT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+21_2161+22dupGT
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+21_11+22dupGT
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19420_*1195+19421dupGT
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 3.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 7.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7246
  bin: 4.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 5.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 6.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 5.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 3.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 4.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 6.25e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7273
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14552
  bin: 9.75e1
  variant carriers: 613
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 4702
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genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 7.5e0
  variant carriers: 2
num of homozygotes: 1
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

17-26911647-T-TACAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911651
    reference: chr 17
allele count: 11
allele frequency: 1.136457558475907e-4
allele num: 96792
alternate allele: TACAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+19_660+22dupGTGT
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-153_343-150dupGTGT
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19418_*1195+19421dupGTGT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+19_11+22dupGTGT
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-381_525-378dupGTGT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+19_2161+22dupGTGT
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7246
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 7273
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4702
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

17-26911647-T-TACACAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911653
    reference: chr 17
allele count: 3
allele frequency: 3.099429704934292e-5
allele num: 96792
alternate allele: TACACAC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+17_11+22dupGTGTGT
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+17_2161+22dupGTGTGT
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-383_525-378dupGTGTGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+17_660+22dupGTGTGT
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-155_343-150dupGTGTGT
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14552
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7273
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

17-26911647-TAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911645
    reference: chr 17
allele count: 6899
allele frequency: 7.127655178113894e-2
allele num: 96792
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+21_2161+22delGT
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+21_660+22delGT
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19420_*1195+19421delGT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+21_11+22delGT
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-151_343-150delGT
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-379_525-378delGT
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 7.25e1
  variant carriers: 264
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 6.25e1
  variant carriers: 748
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.75e1
  variant carriers: 339
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 3.25e1
  variant carriers: 449
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 8.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 3.75e1
  variant carriers: 774
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 2.75e1
  variant carriers: 185
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.75e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 7246
  bin: 4.75e1
  variant carriers: 1228
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 8.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 6.75e1
  variant carriers: 490
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 5.75e1
  variant carriers: 972
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 4.25e1
  variant carriers: 1084
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 5.25e1
  variant carriers: 1145
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 7.75e1
  variant carriers: 272
genotype quality: GenotypeQuality
  all individuals: 14552
  bin: 9.75e1
  variant carriers: 1993
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 7.5e0
  variant carriers: 300
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 9.25e1
  variant carriers: 203
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 7.25e1
  variant carriers: 311
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 1.75e1
  variant carriers: 378
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 8.75e1
  variant carriers: 277
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 2.25e1
  variant carriers: 341
genotype quality: GenotypeQuality
  all individuals: 4702
  bin: 6.25e1
  variant carriers: 371
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 371
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 1.25e1
  variant carriers: 328
genotype quality: GenotypeQuality
  all individuals: 7273
  bin: 2.5e0
  variant carriers: 237
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: TAC
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-26911647-TACAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911643
    reference: chr 17
allele count: 6
allele frequency: 6.198859409868585e-5
allele num: 96792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-153_343-150delGTGT
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+19_2161+22delGTGT
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+19_11+22delGTGT
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19418_*1195+19421delGTGT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-381_525-378delGTGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+19_660+22delGTGT
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7246
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14552
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7273
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: TACAC
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

17-26911652-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911652
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911652
    reference: chr 17
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19417T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+18T>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-154T>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+18T>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+18T>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-382T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4938
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6603
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/17-26911653-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911653
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911653
    reference: chr 17
allele count: 3
allele frequency: 2.471780505891077e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19416G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+17G>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-155G>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+17G>T
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-383G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+17G>T
  variant of: http://identifiers.org/hgnc/13452
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10195
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-26911655-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911655
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911655
    reference: chr 17
allele count: 4
allele frequency: 3.298479400996141e-5
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-385G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-157G>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+15G>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+15G>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+15G>C
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19414G>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10161
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5401
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21328
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-26911655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911655
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911655
    reference: chr 17
allele count: 9
allele frequency: 7.421578652241316e-5
allele num: 121268
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000323300
  ensembl transcript: ENST00000321765
  gene symbol: SPAG5
  hgvsc: ENST00000321765.5:c.2161+15G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000463095
  ensembl transcript: ENST00000584206
  gene symbol: SPAG5
  hgvsc: ENST00000584206.1:c.660+15G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000466021
  ensembl transcript: ENST00000378976
  gene symbol: SPAG5
  hgvsc: ENST00000378976.5:c.11+15G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076382
  ensembl protein: ENSP00000464474
  ensembl transcript: ENST00000580083
  gene symbol: SPAG5
  hgvsc: ENST00000580083.2:c.343-157G>A
  variant of: http://identifiers.org/hgnc/13452
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000431165
  ensembl transcript: ENST00000531839
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000531839.1:c.525-385G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1195+19414G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5401
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21328
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4917
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/17-26911657-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26911657
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26911657
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49563
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.68e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

MQRankSum
type: SiteQuality
SIO_000300: 7.07e-1

FS
type: SiteQuality
SIO_000300: 1.957e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.294e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.622e0

DP
type: SiteQuality
SIO_000300: 3.539656e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
all individuals: 1650
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2924
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

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

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: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

QD
type: SiteQuality
SIO_000300: 1.379e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.417e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.539852e6

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1652
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

FS
type: SiteQuality
SIO_000300: 2.901e0

DP
type: SiteQuality
SIO_000300: 3.539978e6

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

QD
type: SiteQuality
SIO_000300: 1.486e1

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.31e0

GenotypeQuality
all individuals: 1493
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2930
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 7.75e1
variant carriers: 0

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

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

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

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: 66740
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.97e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.875e0

QD
type: SiteQuality
SIO_000300: 9.93e0

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 3.540215e6

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

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

GenotypeQuality
all individuals: 978
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.544e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.233e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

FS
type: SiteQuality
SIO_000300: 1.0208e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

QD
type: SiteQuality
SIO_000300: 1.148e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.540229e6

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

FS
type: SiteQuality
SIO_000300: 2.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e0

MQ
type: SiteQuality
SIO_000300: 6.033e1

DP
type: SiteQuality
SIO_000300: 3.540292e6

QD
type: SiteQuality
SIO_000300: 1.112e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e0

FS
type: SiteQuality
SIO_000300: 2.0e0

MQ
type: SiteQuality
SIO_000300: 6.033e1

QD
type: SiteQuality
SIO_000300: 1.112e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

DP
type: SiteQuality
SIO_000300: 3.540292e6

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.540276e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.445e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 76
allele frequency: 6.56417343237174e-3
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 54
allele frequency: 8.164499546416692e-3
allele num: 6614
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1160
allele frequency: 1.738088103086605e-2
allele num: 66740
num of homozygotes: 20

South Asian
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allele count: 79
allele frequency: 4.784399224806201e-3
allele num: 16512
num of homozygotes: 2

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

African
type: Population
allele count: 24
allele frequency: 2.306361714395541e-3
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 13
allele frequency: 1.431718061674009e-2
allele num: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 3.680182e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.28e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

FS
type: SiteQuality
SIO_000300: 5.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.753e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

FS
type: SiteQuality
SIO_000300: 5.51e-1

DP
type: SiteQuality
SIO_000300: 3.561486e6

QD
type: SiteQuality
SIO_000300: 1.232e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49539
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 970
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 3.561288e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.185e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 49563
bin: 9.75e1
variant carriers: 112

European (Non-Finnish)
type: Population
allele count: 83
allele frequency: 1.243669273876952e-3
allele num: 66738
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: 18
allele frequency: 1.554672655035412e-3
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.574427e6

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.291e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

South Asian
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allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.34e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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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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variant carriers: 10

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

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

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

European (Non-Finnish)
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allele count: 10
allele frequency: 1.498351813005694e-4
allele num: 66740
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.827e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 3.56289e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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ClippingRankSum
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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variant carriers: 1

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

Other
type: Population
allele count: 0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.146e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.562042e6

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.272e0

ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 7.75e1
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GenotypeQuality
all individuals: 1638
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-1

FS
type: SiteQuality
SIO_000300: 6.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.586e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.56202e6

QD
type: SiteQuality
SIO_000300: 1.409e1

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e0

VQSLOD
type: SiteQuality
SIO_000300: 4.22e-1

FS
type: SiteQuality
SIO_000300: 1.766e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.28e-1

QD
type: SiteQuality
SIO_000300: 1.437e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 3.562079e6

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 12

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2969
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.267441860465116e-4
allele num: 16512
num of homozygotes: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.221e0

QD
type: SiteQuality
SIO_000300: 1.248e1

DP
type: SiteQuality
SIO_000300: 3.563319e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.187e0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49528
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.423e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.465e0

VQSLOD
type: SiteQuality
SIO_000300: 6.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.319e0

DP
type: SiteQuality
SIO_000300: 3.562145e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

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

GenotypeQuality
all individuals: 1486
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49528
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1662
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.562214e6

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 8.111000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.26e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: -3.063e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.48e-1

QD
type: SiteQuality
SIO_000300: 1.255e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

GenotypeQuality
all individuals: 973
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 964
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.57e-1

FS
type: SiteQuality
SIO_000300: 2.737e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 3.562181e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.322e1

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2963
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49527
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.43e1

DP
type: SiteQuality
SIO_000300: 3.562446e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 1481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49527
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.754e0

QD
type: SiteQuality
SIO_000300: 1.392e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 3.562288e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.02e0

VQSLOD
type: SiteQuality
SIO_000300: 8.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 31

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

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

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

East Asian
type: Population
allele count: 23
allele frequency: 2.657730529235036e-3
allele num: 8654
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 3.565645e6

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.667e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.412e1

GenotypeQuality
all individuals: 1488
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 969
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.562349e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e-1

FS
type: SiteQuality
SIO_000300: 5.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.031e1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

QD
type: SiteQuality
SIO_000300: 1.602e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.56232e6

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 4.025e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.86e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.25e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

GenotypeQuality
all individuals: 2963
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 7.25e1
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: 8654
num of homozygotes: 0

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

Latino
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allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Other
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ClippingRankSum
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MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 4.9e-3

FS
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SIO_000300: 1.766e0

ReadPosRankSum
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SIO_000300: 1.02e0

BaseQRankSum
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SIO_000300: -5.743e0

DP
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SIO_000300: 3.562571e6

QD
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SIO_000300: 1.217e1

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)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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African
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Other
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

ClippingRankSum
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SIO_000300: -8.57e-1

FS
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MQ
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QD
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VQSLOD
type: SiteQuality
SIO_000300: 6.11e-1

BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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European (Finnish)
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
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MQRankSum
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QD
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DP
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MQ
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ClippingRankSum
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SIO_000300: 6.48e-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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Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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European (Finnish)
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allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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InbreedingCoeff
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FS
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.993766482857828e-5
allele num: 66736
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 frequency: 0.0e0
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Other
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num of homozygotes: 0

South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.05e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
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QD
type: SiteQuality
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DP
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VQSLOD
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

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

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

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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FS
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QD
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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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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Other
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African
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European (Finnish)
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South Asian
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East Asian
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Latino
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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DP
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VQSLOD
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MQRankSum
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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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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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Latino
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South Asian
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FS
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BaseQRankSum
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ClippingRankSum
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QD
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DP
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MQ
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MQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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Other
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Latino
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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MQRankSum
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VQSLOD
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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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African
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South Asian
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European (Finnish)
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Other
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East Asian
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Latino
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European (Non-Finnish)
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.392e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.11e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 3.562207e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.05e-1

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

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3001
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.46e0

DP
type: SiteQuality
SIO_000300: 3.562241e6

VQSLOD
type: SiteQuality
SIO_000300: 4.66e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.301e1

FS
type: SiteQuality
SIO_000300: 5.007e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 962
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1478
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49514
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 963
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.533e0

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 3.454e0

QD
type: SiteQuality
SIO_000300: 1.205e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

DP
type: SiteQuality
SIO_000300: 3.561636e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49514
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variant carriers: 1

GenotypeQuality
all individuals: 2992
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.173e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.212e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

DP
type: SiteQuality
SIO_000300: 3.561806e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 3.561667e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 1.451e0

QD
type: SiteQuality
SIO_000300: 1.376e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.065e0

GenotypeQuality
all individuals: 1476
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 5.772e1

QD
type: SiteQuality
SIO_000300: 1.688e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

DP
type: SiteQuality
SIO_000300: 3.561614e6

VQSLOD
type: SiteQuality
SIO_000300: 4.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.727e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.24e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.580000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 3.561472e6

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 960
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.784e0

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

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.189e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
SIO_000300: 5.666e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.388e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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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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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: 7.75e1
variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
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: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.077e1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1510
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49748141041017e-5
allele num: 66704
num of homozygotes: 0

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

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

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: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.154e0

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

FS
type: SiteQuality
SIO_000300: 1.683e0

DP
type: SiteQuality
SIO_000300: 3.554506e6

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 1.397e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

GenotypeQuality
all individuals: 1448
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

DP
type: SiteQuality
SIO_000300: 3.554506e6

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.154e0

FS
type: SiteQuality
SIO_000300: 1.683e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.397e1

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 51438
bin: 9.75e1
variant carriers: 11799

GenotypeQuality
all individuals: 775
bin: 8.75e1
variant carriers: 4

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

GenotypeQuality
all individuals: 1248
bin: 6.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1165
bin: 7.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1283
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 101
bin: 2.25e1
variant carriers: 1

African
type: Population
allele count: 201
allele frequency: 1.935670261941448e-2
allele num: 10384
num of homozygotes: 5

East Asian
type: Population
allele count: 667
allele frequency: 7.70920018492834e-2
allele num: 8652
num of homozygotes: 27

Other
type: Population
allele count: 105
allele frequency: 1.161504424778761e-1
allele num: 904
num of homozygotes: 9

South Asian
type: Population
allele count: 2555
allele frequency: 1.550740470988104e-1
allele num: 16476
num of homozygotes: 215

Latino
type: Population
allele count: 1681
allele frequency: 1.452644313861044e-1
allele num: 11572
num of homozygotes: 132

European (Non-Finnish)
type: Population
allele count: 6775
allele frequency: 1.015833508261613e-1
allele num: 66694
num of homozygotes: 365

European (Finnish)
type: Population
allele count: 643
allele frequency: 9.721802237677653e-2
allele num: 6614
num of homozygotes: 21

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.82e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e0

VQSLOD
type: SiteQuality
SIO_000300: 6.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

DP
type: SiteQuality
SIO_000300: 4.001088e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

QD
type: SiteQuality
SIO_000300: 1.623e1

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1283
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998770504093322e-5
allele num: 66694
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
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

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: 8652
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.82e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

DP
type: SiteQuality
SIO_000300: 4.001088e6

VQSLOD
type: SiteQuality
SIO_000300: 6.42e0

QD
type: SiteQuality
SIO_000300: 1.623e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

GenotypeQuality
all individuals: 1364
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1488
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1541
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
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: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.61e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.128e0

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

DP
type: SiteQuality
SIO_000300: 3.675826e6

QD
type: SiteQuality
SIO_000300: 1.438e1

GenotypeQuality
all individuals: 6053
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3560
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4077
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3614
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28575
bin: 9.75e1
variant carriers: 3

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012138919846983e-5
allele num: 66398
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 1.431e1

VQSLOD
type: SiteQuality
SIO_000300: 7.76e-1

DP
type: SiteQuality
SIO_000300: 2.954751e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.608e0

GenotypeQuality
all individuals: 222
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4758
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2904
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28565
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 264
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4072
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.235177865612648e-4
allele num: 16192
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.05e-1

QD
type: SiteQuality
SIO_000300: 1.467e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.381e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 1.113e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.14e-1

DP
type: SiteQuality
SIO_000300: 2.955092e6

GenotypeQuality
all individuals: 316
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3583
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3624
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28599
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4108
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4824
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
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)
type: Population
allele count: 3
allele frequency: 4.515216278859757e-5
allele num: 66442
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.319e1

FS
type: SiteQuality
SIO_000300: 3.557e0

DP
type: SiteQuality
SIO_000300: 2.957648e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.396e0

GenotypeQuality
all individuals: 6423
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4185
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4082
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4838
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28557
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.161429451632779e-5
allele num: 16230
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 1.039e0

MQ
type: SiteQuality
SIO_000300: 5.777e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 2.763e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 2.959236e6

VQSLOD
type: SiteQuality
SIO_000300: -4.31e-2

GenotypeQuality
all individuals: 272
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3659
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28628
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6581
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4253
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4153
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.105e0

DP
type: SiteQuality
SIO_000300: 2.962495e6

QD
type: SiteQuality
SIO_000300: 1.43e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
all individuals: 4097
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3584
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4880
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6614
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3617
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28566
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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: 11482
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.150061500615006e-5
allele num: 16260
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: 66420
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.104e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.853e0

MQRankSum
type: SiteQuality
SIO_000300: -3.192e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.16e0

DP
type: SiteQuality
SIO_000300: 2.964214e6

QD
type: SiteQuality
SIO_000300: 2.763e1

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4916
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4124
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4240
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3603
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3649
bin: 9.25e1
variant carriers: 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: 8636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 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: 1
allele frequency: 6.126700159294204e-5
allele num: 16322
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.238e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.484e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

QD
type: SiteQuality
SIO_000300: 2.516e1

MQRankSum
type: SiteQuality
SIO_000300: -2.824e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.19e1

DP
type: SiteQuality
SIO_000300: 2.97113e6

GenotypeQuality
all individuals: 224
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4876
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 4.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.159152500615915e-5
allele num: 16236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66330
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.563e0

MQRankSum
type: SiteQuality
SIO_000300: -1.425e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.479e1

DP
type: SiteQuality
SIO_000300: 2.973291e6

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5061
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6925
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3687
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

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

African
type: Population
allele count: 53
allele frequency: 5.096153846153846e-3
allele num: 10400
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.359e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.366e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.515e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

DP
type: SiteQuality
SIO_000300: 2.979934e6

GenotypeQuality
all individuals: 3041
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4191
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6941
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 95
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5050
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

QD
type: SiteQuality
SIO_000300: 2.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.986857e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.678e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

GenotypeQuality
all individuals: 2041
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3282
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2044
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 30
allele frequency: 3.374578177727784e-3
allele num: 8890
num of homozygotes: 0

Latino
type: Population
allele count: 19
allele frequency: 2.18491260349586e-3
allele num: 8696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 31
allele frequency: 5.284691442209342e-3
allele num: 5866
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 9.903791737408036e-4
allele num: 7068
num of homozygotes: 0

South Asian
type: Population
allele count: 156
allele frequency: 1.289895816107161e-2
allele num: 12094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 373
allele frequency: 6.98135808939133e-3
allele num: 53428
num of homozygotes: 1

Other
type: Population
allele count: 5
allele frequency: 6.666666666666667e-3
allele num: 750
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.65e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

DP
type: SiteQuality
SIO_000300: 3.325114e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 1859
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3282
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1724
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14552
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2044
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.480568877129155e-4
allele num: 12094
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.249718785151856e-4
allele num: 8890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.123006663172868e-4
allele num: 53428
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

DP
type: SiteQuality
SIO_000300: 3.325114e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.65e-2

QD
type: SiteQuality
SIO_000300: 1.99e0

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

GenotypeQuality
all individuals: 4702
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1724
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2044
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3282
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.615033315864341e-5
allele num: 53428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8696
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12094
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 3.325114e6

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.65e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 1634
bin: 5.25e1
variant carriers: 362

GenotypeQuality
all individuals: 1859
bin: 3.25e1
variant carriers: 360

GenotypeQuality
all individuals: 3282
bin: 6.75e1
variant carriers: 306

GenotypeQuality
all individuals: 1724
bin: 4.75e1
variant carriers: 399

GenotypeQuality
all individuals: 2460
bin: 8.25e1
variant carriers: 243

GenotypeQuality
all individuals: 1847
bin: 3.75e1
variant carriers: 349

GenotypeQuality
all individuals: 2041
bin: 2.75e1
variant carriers: 368

GenotypeQuality
all individuals: 1558
bin: 5.75e1
variant carriers: 373

South Asian
type: Population
allele count: 1674
allele frequency: 1.384157433438069e-1
allele num: 12094
num of homozygotes: 0

African
type: Population
allele count: 479
allele frequency: 5.388076490438695e-2
allele num: 8890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3490
allele frequency: 6.532155424122184e-2
allele num: 53428
num of homozygotes: 0

Latino
type: Population
allele count: 676
allele frequency: 7.773689052437903e-2
allele num: 8696
num of homozygotes: 0

East Asian
type: Population
allele count: 399
allele frequency: 5.64516129032258e-2
allele num: 7068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 128
allele frequency: 2.182066143879986e-2
allele num: 5866
num of homozygotes: 0

Other
type: Population
allele count: 53
allele frequency: 7.066666666666667e-2
allele num: 750
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.65e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

DP
type: SiteQuality
SIO_000300: 3.325114e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

QD
type: SiteQuality
SIO_000300: 1.99e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 2041
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1724
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4702
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1847
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
bin: 3.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.26856292376385e-5
allele num: 12094
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.374578177727784e-4
allele num: 8890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.87167777195478e-5
allele num: 53428
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.149954001839926e-4
allele num: 8696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.325114e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.65e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

QD
type: SiteQuality
SIO_000300: 1.99e0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10594
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21320
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5412
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3142
bin: 8.75e1
variant carriers: 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: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.587e0

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.741043e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.052e1

GenotypeQuality
all individuals: 4272
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10664
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4935
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21322
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5417
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3141
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496807266840543e-5
allele num: 66714
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 8652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.85e-1

FS
type: SiteQuality
SIO_000300: 4.039e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 2.7402e6

QD
type: SiteQuality
SIO_000300: 1.272e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.603e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

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

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4258
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4148
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4917
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
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: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
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: 6604
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.819284414796847e-4
allele num: 16490
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

QD
type: SiteQuality
SIO_000300: 1.496e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.346e0

DP
type: SiteQuality
SIO_000300: 2.744314e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4258
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3130
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.254974548819991e-4
allele num: 8644
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.744314e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.346e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.496e1