2-86074940-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074940
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074940
    reference: chr 2
allele count: 2
allele frequency: 1.892219194671511e-5
allele num: 105696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.578+44T>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*500+44T>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.593+44T>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1716+44T>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.662+44T>C
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8274
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14060
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

2-86074941-CAAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074941
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074938
    reference: chr 2
allele count: 1
allele frequency: 9.443048971651967e-6
allele num: 105898
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.593+40_593+42delATT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.662+40_662+42delATT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.578+40_578+42delATT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*500+40_*500+42delATT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1716+40_1716+42delATT
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5614
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5071
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: CAAT
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

2-86074944-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074944
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074944
    reference: chr 2
allele count: 134
allele frequency: 1.242351195994808e-3
allele num: 107860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.593+40A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*500+40A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.578+40A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1716+40A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.662+40A>G
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7803
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 18074
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8541
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-86074944-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074944
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074945
    reference: chr 2
allele count: 1
allele frequency: 9.271277582050807e-6
allele num: 107860
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.578+39dupT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1716+39dupT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.662+39dupT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*500+39dupT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.593+39dupT
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8541
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14193
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-86074946-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074946
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074946
    reference: chr 2
allele count: 1
allele frequency: 9.075068970524176e-6
allele num: 110192
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.662+38T>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*500+38T>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.578+38T>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1716+38T>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.593+38T>A
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14180
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5980
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

2-86074949-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074949
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074949
    reference: chr 2
allele count: 67
allele frequency: 5.896433977540747e-4
allele num: 113628
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.662+35T>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*500+35T>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1716+35T>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.578+35T>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.593+35T>C
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8236
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 22015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8773
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6422
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

2-86074954-T-TAAAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074954
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074958
    reference: chr 2
allele count: 2
allele frequency: 1.716001716001716e-5
allele num: 116550
alternate allele: TAAAC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*500+26_*500+29dupGTTT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.662+26_662+29dupGTTT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.578+26_578+29dupGTTT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1716+26_1716+29dupGTTT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.593+26_593+29dupGTTT
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 21554
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3629
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 91
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genotype quality: GenotypeQuality
  all individuals: 14334
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

2-86074954-T-TCAAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074954
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074958
    reference: chr 2
allele count: 1
allele frequency: 8.58000858000858e-6
allele num: 116550
alternate allele: TCAAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.578+29_578+30insGTTG
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.593+29_593+30insGTTG
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.662+29_662+30insGTTG
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*500+29_*500+30insGTTG
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1716+29_1716+30insGTTG
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14334
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ

2-86074954-TAAAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074954
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074950
    reference: chr 2
allele count: 11
allele frequency: 9.438009438009438e-5
allele num: 116550
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*500+26_*500+29delGTTT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.578+26_578+29delGTTT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1716+26_1716+29delGTTT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.662+26_662+29delGTTT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.593+26_593+29delGTTT
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23175
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TAAAC
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/2-86074964-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074964
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074962
    reference: chr 2
allele count: 143
allele frequency: 1.203156814242684e-3
allele num: 118854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*500+18_*500+19delGT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.578+18_578+19delGT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.593+18_593+19delGT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.662+18_662+19delGT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1716+18_1716+19delGT
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 23792
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9247
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8923
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6947
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14778
  bin: 9.75e1
  variant carriers: 141
num of homozygotes: 1
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: AAC
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/2-86074966-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074966
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074967
    reference: chr 2
allele count: 8
allele frequency: 6.755045174364603e-5
allele num: 118430
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*500+17dupT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.593+17dupT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.662+17dupT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1716+17dupT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.578+17dupT
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14644
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6820
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-86074966-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074966
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074965
    reference: chr 2
allele count: 3
allele frequency: 2.533141940386726e-5
allele num: 118430
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.662+17delT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.578+17delT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.593+17delT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*500+17delT
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1716+17delT
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23183
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3782
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: CA
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-86074969-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074969
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074969
    reference: chr 2
allele count: 1
allele frequency: 8.388276544701125e-6
allele num: 119214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*500+15T>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.578+15T>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1716+15T>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.593+15T>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.662+15T>C
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23237
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9072
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6977
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15069
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3490
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/2-86074970-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074970
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074970
    reference: chr 2
allele count: 1
allele frequency: 8.385181706887589e-6
allele num: 119258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.593+14T>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*500+14T>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1716+14T>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.578+14T>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.662+14T>G
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15073
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/2-86074974-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074974
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074974
    reference: chr 2
allele count: 1
allele frequency: 8.373105584861425e-6
allele num: 119430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*500+10T>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.593+10T>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.662+10T>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.578+10T>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1716+10T>G
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6991
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 15077
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-86074975-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074975
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074975
    reference: chr 2
allele count: 8
allele frequency: 6.696353835336659e-5
allele num: 119468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1716+9G>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.578+9G>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.593+9G>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.662+9G>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*500+9G>T
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9086
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15085
  bin: 9.75e1
  variant carriers: 8
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

2-86074997-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074997
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074997
    reference: chr 2
allele count: 1
allele frequency: 8.33152816889674e-6
allele num: 120026
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.649G>C
  hgvsp: ENSP00000366549.3:p.Asp217His
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.565G>C
  hgvsp: ENSP00000377394.1:p.Asp189His
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1703G>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*487G>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.580G>C
  hgvsp: ENSP00000377397.3:p.Asp194His
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp217His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-86074997-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074997
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074997
    reference: chr 2
allele count: 1
allele frequency: 8.33152816889674e-6
allele num: 120026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*487G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.649G>A
  hgvsp: ENSP00000366549.3:p.Asp217Asn
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1703G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.565G>A
  hgvsp: ENSP00000377394.1:p.Asp189Asn
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.580G>A
  hgvsp: ENSP00000377397.3:p.Asp194Asn
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp217Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

2-86074998-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86074998
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86074998
    reference: chr 2
allele count: 268
allele frequency: 2.232365974744278e-3
allele num: 120052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.579C>T
  hgvsp: ENST00000393808.3:c.579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.564C>T
  hgvsp: ENST00000393805.1:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*486C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1702C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.648C>T
  hgvsp: ENST00000377332.3:c.648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 9.75e1
  variant carriers: 211
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7007
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3874
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe216Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-86075009-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075009
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075009
    reference: chr 2
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1691C>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.568C>G
  hgvsp: ENSP00000377397.3:p.Leu190Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.637C>G
  hgvsp: ENSP00000366549.3:p.Leu213Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.553C>G
  hgvsp: ENSP00000377394.1:p.Leu185Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*475C>G
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3504
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu213Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/2-86075029-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075029
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075029
    reference: chr 2
allele count: 1
allele frequency: 8.30937463646486e-6
allele num: 120346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.533G>T
  hgvsp: ENSP00000377394.1:p.Gly178Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.617G>T
  hgvsp: ENSP00000366549.3:p.Gly206Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.548G>T
  hgvsp: ENSP00000377397.3:p.Gly183Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*455G>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1671G>T
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15248
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7025
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22640
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly206Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

2-86075030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075030
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075030
    reference: chr 2
allele count: 1
allele frequency: 8.30827005200977e-6
allele num: 120362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.547G>A
  hgvsp: ENSP00000377397.3:p.Gly183Arg
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.616G>A
  hgvsp: ENSP00000366549.3:p.Gly206Arg
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*454G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.532G>A
  hgvsp: ENSP00000377394.1:p.Gly178Arg
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1670G>A
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15249
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly206Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

2-86075031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075031
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075031
    reference: chr 2
allele count: 2
allele frequency: 1.661460756296936e-5
allele num: 120376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.531C>T
  hgvsp: ENST00000393805.1:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1669C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.615C>T
  hgvsp: ENST00000377332.3:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.546C>T
  hgvsp: ENST00000393808.3:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*453C>T
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23523
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His205His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

2-86075034-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075034
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075034
    reference: chr 2
allele count: 1
allele frequency: 8.303854649328218e-6
allele num: 120426
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.528G>C
  hgvsp: ENST00000393805.1:c.528G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.612G>C
  hgvsp: ENST00000377332.3:c.612G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.543G>C
  hgvsp: ENST00000393808.3:c.543G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1666G>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*450G>C
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15249
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7026
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu204Leu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

2-86075045-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075045
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075045
    reference: chr 2
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.517G>A
  hgvsp: ENSP00000377394.1:p.Gly173Arg
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.601G>A
  hgvsp: ENSP00000366549.3:p.Gly201Arg
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.532G>A
  hgvsp: ENSP00000377397.3:p.Gly178Arg
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*439G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1655G>A
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7031
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3894
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22706
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly201Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

2-86075046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075046
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075046
    reference: chr 2
allele count: 2
allele frequency: 1.658814942605003e-5
allele num: 120568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1654C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.516C>T
  hgvsp: ENST00000393805.1:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.600C>T
  hgvsp: ENST00000377332.3:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*438C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.531C>T
  hgvsp: ENST00000393808.3:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15254
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser200Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-86075049-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075049
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075049
    reference: chr 2
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.528A>G
  hgvsp: ENST00000393808.3:c.528A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*435A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.597A>G
  hgvsp: ENST00000377332.3:c.597A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.513A>G
  hgvsp: ENST00000393805.1:c.513A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1651A>G
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7031
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly199Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

2-86075065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075065
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075065
    reference: chr 2
allele count: 2
allele frequency: 1.655711376392867e-5
allele num: 120794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.512G>A
  hgvsp: ENSP00000377397.3:p.Arg171His
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.581G>A
  hgvsp: ENSP00000366549.3:p.Arg194His
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*419G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.497G>A
  hgvsp: ENSP00000377394.1:p.Arg166His
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1635G>A
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg194His
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

2-86075066-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075066
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075066
    reference: chr 2
allele count: 5
allele frequency: 4.139004321120511e-5
allele num: 120802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.511C>T
  hgvsp: ENSP00000377397.3:p.Arg171Cys
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.580C>T
  hgvsp: ENSP00000366549.3:p.Arg194Cys
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*418C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.496C>T
  hgvsp: ENSP00000377394.1:p.Arg166Cys
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1634C>T
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg194Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-86075069-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075069
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075069
    reference: chr 2
allele count: 1
allele frequency: 8.272803984182399e-6
allele num: 120878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*415C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1631C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.577C>T
  hgvsp: ENSP00000366549.3:p.Arg193Trp
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.493C>T
  hgvsp: ENSP00000377394.1:p.Arg165Trp
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.508C>T
  hgvsp: ENSP00000377397.3:p.Arg170Trp
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2880
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg193Trp
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

2-86075073-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075073
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075073
    reference: chr 2
allele count: 2
allele frequency: 1.653521173338625e-5
allele num: 120954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*411C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1627C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.504C>T
  hgvsp: ENST00000393808.3:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.489C>T
  hgvsp: ENST00000393805.1:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.573C>T
  hgvsp: ENST00000377332.3:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7057
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr191Thr
num of homozygotes: 1
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-86075080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075080
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075080
    reference: chr 2
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1620C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.497C>T
  hgvsp: ENSP00000377397.3:p.Ala166Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.566C>T
  hgvsp: ENSP00000366549.3:p.Ala189Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*404C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.482C>T
  hgvsp: ENSP00000377394.1:p.Ala161Val
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3910
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15266
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala189Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-86075100-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075100
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075100
    reference: chr 2
allele count: 6
allele frequency: 4.950331672222039e-5
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.546C>T
  hgvsp: ENST00000377332.3:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.462C>T
  hgvsp: ENST00000393805.1:c.462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.477C>T
  hgvsp: ENST00000393808.3:c.477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*384C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1600C>T
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7086
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3521
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp182Asp
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: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

2-86075102-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075102
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075102
    reference: chr 2
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.544G>A
  hgvsp: ENSP00000366549.3:p.Asp182Asn
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1598G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*382G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.475G>A
  hgvsp: ENSP00000377397.3:p.Asp159Asn
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.460G>A
  hgvsp: ENSP00000377394.1:p.Asp154Asn
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9437
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15272
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3522
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp182Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

2-86075105-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075105
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075105
    reference: chr 2
allele count: 2
allele frequency: 1.649402916144356e-5
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.457C>T
  hgvsp: ENSP00000377394.1:p.His153Tyr
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1595C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.541C>T
  hgvsp: ENSP00000366549.3:p.His181Tyr
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.472C>T
  hgvsp: ENSP00000377397.3:p.His158Tyr
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*379C>T
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  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: 23029
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15271
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His181Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

2-86075108-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075108
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075108
    reference: chr 2
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.469G>A
  hgvsp: ENSP00000377397.3:p.Glu157Lys
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1592G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*376G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.538G>A
  hgvsp: ENSP00000366549.3:p.Glu180Lys
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.454G>A
  hgvsp: ENSP00000377394.1:p.Glu152Lys
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3934
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu180Lys
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: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-86075124-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075124
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075124
    reference: chr 2
allele count: 5
allele frequency: 4.119159032491926e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.453C>G
  hgvsp: ENST00000393808.3:c.453C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*360C>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.438C>G
  hgvsp: ENST00000393805.1:c.438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1576C>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.522C>G
  hgvsp: ENST00000377332.3:c.522C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  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: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu174Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-86075151-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075151
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075151
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1549G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.411G>A
  hgvsp: ENST00000393805.1:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.426G>A
  hgvsp: ENST00000393808.3:c.426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.495G>A
  hgvsp: ENST00000377332.3:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*333G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.411G>A
  hgvsp: ENST00000455892.1:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 3.25e1
  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: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg165Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-86075152-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075152
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075152
    reference: chr 2
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.410G>A
  hgvsp: ENSP00000377394.1:p.Arg137Gln
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1548G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.425G>A
  hgvsp: ENSP00000377397.3:p.Arg142Gln
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*332G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.410G>A
  hgvsp: ENSP00000401375.1:p.Arg137Gln
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.494G>A
  hgvsp: ENSP00000366549.3:p.Arg165Gln
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg165Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-86075153-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075153
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075153
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.424C>T
  hgvsp: ENSP00000377397.3:p.Arg142Trp
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.409C>T
  hgvsp: ENSP00000401375.1:p.Arg137Trp
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*331C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.409C>T
  hgvsp: ENSP00000377394.1:p.Arg137Trp
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1547C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.493C>T
  hgvsp: ENSP00000366549.3:p.Arg165Trp
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 5.25e1
  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: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  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: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg165Trp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

2-86075172-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075172
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075172
    reference: chr 2
allele count: 17
allele frequency: 1.400214150399473e-4
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1528C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.474C>T
  hgvsp: ENST00000377332.3:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.405C>T
  hgvsp: ENST00000393808.3:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*312C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.390C>T
  hgvsp: ENST00000455892.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.390C>T
  hgvsp: ENST00000393805.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  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: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 17
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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  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: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15298
  bin: 9.75e1
  variant carriers: 17
hgvs: p.Tyr158Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

2-86075176-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075176
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075176
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.386A>G
  hgvsp: ENSP00000401375.1:p.Lys129Arg
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.401A>G
  hgvsp: ENSP00000377397.3:p.Lys134Arg
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.386A>G
  hgvsp: ENSP00000377394.1:p.Lys129Arg
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.470A>G
  hgvsp: ENSP00000366549.3:p.Lys157Arg
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1524A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*308A>G
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23942
  bin: 2.25e1
  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: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  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: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  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
hgvs: p.Lys157Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-86075181-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075181
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075181
    reference: chr 2
allele count: 59
allele frequency: 4.859566757268759e-4
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.396G>A
  hgvsp: ENST00000393808.3:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.381G>A
  hgvsp: ENST00000393805.1:c.381G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*303G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1519G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.381G>A
  hgvsp: ENST00000455892.1:c.381G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.465G>A
  hgvsp: ENST00000377332.3:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  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: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23058
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 7.25e1
  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: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu155Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

2-86075187-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075187
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075187
    reference: chr 2
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.459A>G
  hgvsp: ENST00000377332.3:c.459A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.375A>G
  hgvsp: ENST00000393805.1:c.375A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1513A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.390A>G
  hgvsp: ENST00000393808.3:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.375A>G
  hgvsp: ENST00000455892.1:c.375A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*297A>G
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  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: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  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: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  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: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu153Glu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

2-86075189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075189
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075189
    reference: chr 2
allele count: 8
allele frequency: 6.589134517181169e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1511G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.457G>A
  hgvsp: ENSP00000366549.3:p.Glu153Lys
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.388G>A
  hgvsp: ENSP00000377397.3:p.Glu130Lys
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.373G>A
  hgvsp: ENSP00000377394.1:p.Glu125Lys
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*295G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.373G>A
  hgvsp: ENSP00000401375.1:p.Glu125Lys
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15345
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  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: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu153Lys
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-86075198-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075198
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075198
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.448A>G
  hgvsp: ENSP00000366549.3:p.Lys150Glu
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*286A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1502A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.364A>G
  hgvsp: ENSP00000401375.1:p.Lys122Glu
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.379A>G
  hgvsp: ENSP00000377397.3:p.Lys127Glu
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.364A>G
  hgvsp: ENSP00000377394.1:p.Lys122Glu
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23898
  bin: 2.25e1
  variant carriers: 0
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: 9487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  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: 2021
  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: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys150Glu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

2-86075203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075203
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075203
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.359C>T
  hgvsp: ENSP00000377394.1:p.Ala120Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.443C>T
  hgvsp: ENSP00000366549.3:p.Ala148Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*281C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.374C>T
  hgvsp: ENSP00000377397.3:p.Ala125Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.359C>T
  hgvsp: ENSP00000401375.1:p.Ala120Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1497C>T
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  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: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  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: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15347
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala148Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

2-86075211-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075211
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075211
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1489G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.366G>A
  hgvsp: ENST00000393808.3:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.435G>A
  hgvsp: ENST00000377332.3:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.351G>A
  hgvsp: ENST00000455892.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*273G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.351G>A
  hgvsp: ENST00000393805.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9148
  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: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  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: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3934
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val145Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-86075220-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075220
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075220
    reference: chr 2
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.357C>G
  hgvsp: ENST00000393808.3:c.357C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.426C>G
  hgvsp: ENST00000377332.3:c.426C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.342C>G
  hgvsp: ENST00000393805.1:c.342C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.342C>G
  hgvsp: ENST00000455892.1:c.342C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1480C>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*264C>G
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 15352
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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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: 0
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genotype quality: GenotypeQuality
  all individuals: 3935
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 7102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu142Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum

2-86075222-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075222
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075222
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.340C>A
  hgvsp: ENSP00000401375.1:p.Leu114Ile
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.355C>A
  hgvsp: ENSP00000377397.3:p.Leu119Ile
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*262C>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.424C>A
  hgvsp: ENSP00000366549.3:p.Leu142Ile
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.340C>A
  hgvsp: ENSP00000377394.1:p.Leu114Ile
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1478C>A
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
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genotype depth: GenotypeDepth
  all individuals: 9150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15352
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3935
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu142Ile
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

2-86075224-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075224
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075224
    reference: chr 2
allele count: 6
allele frequency: 4.941932295527551e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1476T>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*260T>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.338T>C
  hgvsp: ENSP00000377394.1:p.Leu113Ser
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.422T>C
  hgvsp: ENSP00000366549.3:p.Leu141Ser
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.338T>C
  hgvsp: ENSP00000401375.1:p.Leu113Ser
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.353T>C
  hgvsp: ENSP00000377397.3:p.Leu118Ser
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  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
hgvs: p.Leu141Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/2-86075231-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075231
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075231
    reference: chr 2
allele count: 6
allele frequency: 4.942013705851344e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.331G>T
  hgvsp: ENSP00000401375.1:p.Val111Leu
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.415G>T
  hgvsp: ENSP00000366549.3:p.Val139Leu
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.331G>T
  hgvsp: ENSP00000377394.1:p.Val111Leu
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.346G>T
  hgvsp: ENSP00000377397.3:p.Val116Leu
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*253G>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1469G>T
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val139Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

2-86075231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075231
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075231
    reference: chr 2
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.346G>A
  hgvsp: ENSP00000377397.3:p.Val116Met
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*253G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1469G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.331G>A
  hgvsp: ENSP00000401375.1:p.Val111Met
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.331G>A
  hgvsp: ENSP00000377394.1:p.Val111Met
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.415G>A
  hgvsp: ENSP00000366549.3:p.Val139Met
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7093
  bin: 6.75e1
  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
hgvs: p.Val139Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

2-86075233-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075233
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075233
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.413G>A
  hgvsp: ENSP00000366549.3:p.Ser138Asn
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*251G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.329G>A
  hgvsp: ENSP00000401375.1:p.Ser110Asn
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1467G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.329G>A
  hgvsp: ENSP00000377394.1:p.Ser110Asn
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.344G>A
  hgvsp: ENSP00000377397.3:p.Ser115Asn
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  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: 3935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15363
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser138Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

2-86075240-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075240
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075240
    reference: chr 2
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.322A>G
  hgvsp: ENSP00000377394.1:p.Arg108Gly
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.406A>G
  hgvsp: ENSP00000366549.3:p.Arg136Gly
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.337A>G
  hgvsp: ENSP00000377397.3:p.Arg113Gly
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*244A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1460A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.322A>G
  hgvsp: ENSP00000401375.1:p.Arg108Gly
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg136Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

2-86075241-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075241
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075241
    reference: chr 2
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1459C>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.336C>A
  hgvsp: ENSP00000377397.3:p.His112Gln
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.321C>A
  hgvsp: ENSP00000401375.1:p.His107Gln
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.405C>A
  hgvsp: ENSP00000366549.3:p.His135Gln
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.321C>A
  hgvsp: ENSP00000377394.1:p.His107Gln
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*243C>A
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15364
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3934
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His135Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-86075242-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075242
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075242
    reference: chr 2
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.335A>G
  hgvsp: ENSP00000377397.3:p.His112Arg
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.320A>G
  hgvsp: ENSP00000401375.1:p.His107Arg
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1458A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.404A>G
  hgvsp: ENSP00000366549.3:p.His135Arg
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*242A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.320A>G
  hgvsp: ENSP00000377394.1:p.His107Arg
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  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: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His135Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

2-86075246-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075246
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075246
    reference: chr 2
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.316G>C
  hgvsp: ENSP00000401375.1:p.Glu106Gln
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.400G>C
  hgvsp: ENSP00000366549.3:p.Glu134Gln
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.316G>C
  hgvsp: ENSP00000377394.1:p.Glu106Gln
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*238G>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1454G>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.331G>C
  hgvsp: ENSP00000377397.3:p.Glu111Gln
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  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: 3528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu134Gln
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

2-86075256-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075256
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075256
    reference: chr 2
allele count: 140
allele frequency: 1.153573606235889e-3
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.321G>A
  hgvsp: ENST00000393808.3:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.390G>A
  hgvsp: ENST00000377332.3:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*228G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.306G>A
  hgvsp: ENST00000455892.1:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1444G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.306G>A
  hgvsp: ENST00000393805.1:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23770
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3927
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7066
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15470
  bin: 9.75e1
  variant carriers: 140
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: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala130Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-86075257-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075257
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075257
    reference: chr 2
allele count: 80
allele frequency: 6.592066448029796e-4
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1443C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.389C>T
  hgvsp: ENSP00000366549.3:p.Ala130Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.305C>T
  hgvsp: ENSP00000377394.1:p.Ala102Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.320C>T
  hgvsp: ENSP00000377397.3:p.Ala107Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.305C>T
  hgvsp: ENSP00000401375.1:p.Ala102Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*227C>T
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23752
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala130Val
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

2-86075261-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075261
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075261
    reference: chr 2
allele count: 3
allele frequency: 2.472513887286333e-5
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.301A>G
  hgvsp: ENSP00000401375.1:p.Met101Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.301A>G
  hgvsp: ENSP00000377394.1:p.Met101Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*223A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.385A>G
  hgvsp: ENSP00000366549.3:p.Met129Val
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1439A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.316A>G
  hgvsp: ENSP00000377397.3:p.Met106Val
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3918
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met129Val
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

2-86075268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075268
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075268
    reference: chr 2
allele count: 7
allele frequency: 5.771196781321109e-5
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*216G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1432G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.378G>A
  hgvsp: ENST00000377332.3:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.309G>A
  hgvsp: ENST00000393808.3:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.294G>A
  hgvsp: ENST00000455892.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.294G>A
  hgvsp: ENST00000393805.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  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: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7050
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys126Lys
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

2-86075269-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075269
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075269
    reference: chr 2
allele count: 2
allele frequency: 1.648913366091746e-5
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.293A>G
  hgvsp: ENSP00000377394.1:p.Lys98Arg
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1431A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.308A>G
  hgvsp: ENSP00000377397.3:p.Lys103Arg
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.377A>G
  hgvsp: ENSP00000366549.3:p.Lys126Arg
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.293A>G
  hgvsp: ENSP00000401375.1:p.Lys98Arg
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*215A>G
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15497
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys126Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

2-86075284-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075284
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075284
    reference: chr 2
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.278G>C
  hgvsp: ENSP00000377394.1:p.Arg93Pro
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.278G>C
  hgvsp: ENSP00000401375.1:p.Arg93Pro
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000408635
  ensembl transcript: ENST00000433665
  gene symbol: ST3GAL5
  hgvsc: ENST00000433665.1:c.*405G>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*200G>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.293G>C
  hgvsp: ENSP00000377397.3:p.Arg98Pro
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.362G>C
  hgvsp: ENSP00000366549.3:p.Arg121Pro
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1416G>C
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg121Pro
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

2-86075284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075284
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075284
    reference: chr 2
allele count: 9
allele frequency: 7.430769992899487e-5
allele num: 121118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*200G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.278G>A
  hgvsp: ENSP00000401375.1:p.Arg93His
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000408635
  ensembl transcript: ENST00000433665
  gene symbol: ST3GAL5
  hgvsc: ENST00000433665.1:c.*405G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.362G>A
  hgvsp: ENSP00000366549.3:p.Arg121His
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.293G>A
  hgvsp: ENSP00000377397.3:p.Arg98His
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.278G>A
  hgvsp: ENSP00000377394.1:p.Arg93His
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1416G>A
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15505
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg121His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-86075285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075285
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075285
    reference: chr 2
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1415C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.277C>T
  hgvsp: ENSP00000377394.1:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.361C>T
  hgvsp: ENSP00000366549.3:p.Arg121Cys
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.277C>T
  hgvsp: ENSP00000401375.1:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.292C>T
  hgvsp: ENSP00000377397.3:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000408635
  ensembl transcript: ENST00000433665
  gene symbol: ST3GAL5
  hgvsc: ENST00000433665.1:c.*404C>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*199C>T
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15505
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg121Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-86075290-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075290
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075290
    reference: chr 2
allele count: 4
allele frequency: 3.306331625061994e-5
allele num: 120980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000408635
  ensembl transcript: ENST00000433665
  gene symbol: ST3GAL5
  hgvsc: ENST00000433665.1:c.*399A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.356A>G
  hgvsp: ENSP00000366549.3:p.Glu119Gly
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.272A>G
  hgvsp: ENSP00000377394.1:p.Glu91Gly
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.272A>G
  hgvsp: ENSP00000401375.1:p.Glu91Gly
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1410A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.287A>G
  hgvsp: ENSP00000377397.3:p.Glu96Gly
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*194A>G
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15509
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22473
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu119Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-86075292-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075292
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075291
    reference: chr 2
allele count: 15
allele frequency: 1.240202401031848e-4
allele num: 120948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1407delA
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.269delA
  hgvsp: ENSP00000377394.1:p.Lys90ArgfsTer70
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.284delA
  hgvsp: ENSP00000377397.3:p.Lys95ArgfsTer70
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.269delA
  hgvsp: ENSP00000401375.1:p.Lys90ArgfsTer?
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*191delA
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.353delA
  hgvsp: ENSP00000366549.3:p.Lys118ArgfsTer70
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000408635
  ensembl transcript: ENST00000433665
  gene symbol: ST3GAL5
  hgvsc: ENST00000433665.1:c.*396delA
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15519
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2886
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys118ArgfsTer70
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: CT
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-86075303-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075303
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075303
    reference: chr 2
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000408635
  ensembl transcript: ENST00000433665
  gene symbol: ST3GAL5
  hgvsc: ENST00000433665.1:c.*386G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1397G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.259G>A
  hgvsp: ENSP00000377394.1:p.Val87Ile
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.274G>A
  hgvsp: ENSP00000377397.3:p.Val92Ile
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.343G>A
  hgvsp: ENSP00000366549.3:p.Val115Ile
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.259G>A
  hgvsp: ENSP00000401375.1:p.Val87Ile
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*181G>A
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6979
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val115Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-86075312-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075312
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075312
    reference: chr 2
allele count: 1
allele frequency: 8.307579835842223e-6
allele num: 120372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.334G>A
  hgvsp: ENSP00000366549.3:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*172G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.250G>A
  hgvsp: ENSP00000401375.1:p.Ala84Thr
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.265G>A
  hgvsp: ENSP00000377397.3:p.Ala89Thr
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.250G>A
  hgvsp: ENSP00000377394.1:p.Ala84Thr
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000408635
  ensembl transcript: ENST00000433665
  gene symbol: ST3GAL5
  hgvsc: ENST00000433665.1:c.*377G>A
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1388G>A
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3901
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala112Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

2-86075314-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075314
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075314
    reference: chr 2
allele count: 1
allele frequency: 8.30937463646486e-6
allele num: 120346
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.332A>G
  hgvsp: ENSP00000366549.3:p.Tyr111Cys
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1386A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000408635
  ensembl transcript: ENST00000433665
  gene symbol: ST3GAL5
  hgvsc: ENST00000433665.1:c.*375A>G
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.248A>G
  hgvsp: ENSP00000401375.1:p.Tyr83Cys
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.263A>G
  hgvsp: ENSP00000377397.3:p.Tyr88Cys
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.248A>G
  hgvsp: ENSP00000377394.1:p.Tyr83Cys
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*170A>G
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2874
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr111Cys
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

2-86075315-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075315
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075315
    reference: chr 2
allele count: 1
allele frequency: 8.311861025683651e-6
allele num: 120310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.247T>C
  hgvsp: ENSP00000401375.1:p.Tyr83His
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000408635
  ensembl transcript: ENST00000433665
  gene symbol: ST3GAL5
  hgvsc: ENST00000433665.1:c.*374T>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.262T>C
  hgvsp: ENSP00000377397.3:p.Tyr88His
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.247T>C
  hgvsp: ENSP00000377394.1:p.Tyr83His
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*169T>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1385T>C
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.331T>C
  hgvsp: ENSP00000366549.3:p.Tyr111His
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr111His
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

2-86075334-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 86075334
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 86075334
    reference: chr 2
allele count: 1
allele frequency: 8.364840900726069e-6
allele num: 119548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377394
  ensembl transcript: ENST00000393805
  gene symbol: ST3GAL5
  hgvsc: ENST00000393805.1:c.235-7A>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000401375
  ensembl transcript: ENST00000455892
  gene symbol: ST3GAL5
  hgvsc: ENST00000455892.1:c.235-7A>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000366549
  ensembl transcript: ENST00000377332
  gene symbol: ST3GAL5
  hgvsc: ENST00000377332.3:c.319-7A>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000408635
  ensembl transcript: ENST00000433665
  gene symbol: ST3GAL5
  hgvsc: ENST00000433665.1:c.*362-7A>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000377397
  ensembl transcript: ENST00000393808
  gene symbol: ST3GAL5
  hgvsc: ENST00000393808.3:c.250-7A>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115525
  ensembl protein: ENSP00000306247
  ensembl transcript: ENST00000306262
  gene symbol: ST3GAL5
  hgvsc: ENST00000306262.5:c.*150A>T
  variant of: http://identifiers.org/hgnc/10872
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115525
  ensembl transcript: ENST00000461206
  gene symbol: ST3GAL5
  hgvsc: ENST00000461206.1:n.1366A>T
  variant of: http://identifiers.org/hgnc/10872
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15521
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: c.319-7A>T
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T

GenotypeQuality
all individuals: 3064
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2450
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2273
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.463683280800803e-5
allele num: 57742
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15266
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

QD
type: SiteQuality
SIO_000300: 1.578e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.679515e6

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

GenotypeQuality
all individuals: 1630
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14063
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2448
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3029
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10912
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.728488954955578e-5
allele num: 57854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6852
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.543e1

MQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 3.107e1

DP
type: SiteQuality
SIO_000300: 1.696783e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

GenotypeQuality
all individuals: 5064
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14193
bin: 9.75e1
variant carriers: 133

GenotypeQuality
all individuals: 16115
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.356437993828207e-4
allele num: 58978
num of homozygotes: 0

South Asian
type: Population
allele count: 120
allele frequency: 7.76297063009445e-3
allele num: 15458
num of homozygotes: 1

Latino
type: Population
allele count: 2
allele frequency: 1.824817518248175e-4
allele num: 10960
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.437835202340322e-4
allele num: 8204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7136
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.375296912114014e-3
allele num: 842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

DP
type: SiteQuality
SIO_000300: 1.738746e6

QD
type: SiteQuality
SIO_000300: 1.67e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

GenotypeQuality
all individuals: 3122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5064
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1167
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58978
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.218917601170161e-4
allele num: 8204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15458
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

DP
type: SiteQuality
SIO_000300: 1.738746e6

QD
type: SiteQuality
SIO_000300: 1.67e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.68e-1

GenotypeQuality
all individuals: 1045
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3525
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1774
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.656836105772417e-5
allele num: 60356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11066
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.312e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.349e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

DP
type: SiteQuality
SIO_000300: 1.768008e6

GenotypeQuality
all individuals: 14275
bin: 9.75e1
variant carriers: 67

GenotypeQuality
all individuals: 1814
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2573
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 67
allele frequency: 5.986418870621873e-3
allele num: 11192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7804
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

QD
type: SiteQuality
SIO_000300: 1.716e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

DP
type: SiteQuality
SIO_000300: 1.807511e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 6593
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1846
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variant carriers: 0

GenotypeQuality
all individuals: 2606
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variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 7.5e0
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.046243984097091e-4
allele num: 9558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562695336917115e-5
allele num: 63992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8078
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.977e0

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

MQRankSum
type: SiteQuality
SIO_000300: -1.482e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.895e1

DP
type: SiteQuality
SIO_000300: 1.85283e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

GenotypeQuality
all individuals: 3629
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1846
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562695336917115e-5
allele num: 63992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

QD
type: SiteQuality
SIO_000300: 1.213e1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

DP
type: SiteQuality
SIO_000300: 1.85283e6

FS
type: SiteQuality
SIO_000300: 1.977e0

MQRankSum
type: SiteQuality
SIO_000300: -1.482e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

GenotypeQuality
all individuals: 14334
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 180
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3629
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3261
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2643
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.092487968194183e-4
allele num: 9558
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.903441445902451e-4
allele num: 8078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562695336917115e-5
allele num: 63992
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

FS
type: SiteQuality
SIO_000300: 1.977e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

MQ
type: SiteQuality
SIO_000300: 5.895e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.482e0

QD
type: SiteQuality
SIO_000300: 1.213e1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

DP
type: SiteQuality
SIO_000300: 1.85283e6

GenotypeQuality
all individuals: 22577
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
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variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.257623554153522e-4
allele num: 11412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.657671455263884e-5
allele num: 65294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 132
allele frequency: 1.334411645774363e-2
allele num: 9892
num of homozygotes: 1

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

QD
type: SiteQuality
SIO_000300: 1.025e1

VQSLOD
type: SiteQuality
SIO_000300: 2.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 1.865e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

DP
type: SiteQuality
SIO_000300: 1.880049e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

GenotypeQuality
all individuals: 1945
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3782
bin: 7.75e1
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GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 3415
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.073784322748888e-4
allele num: 65190
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.12294881214793e-5
allele num: 16332
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

QD
type: SiteQuality
SIO_000300: 6.11e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 1.335e0

DP
type: SiteQuality
SIO_000300: 1.892397e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

GenotypeQuality
all individuals: 390
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6820
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14644
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variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2783
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.601932811780948e-5
allele num: 65190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 1.335e0

DP
type: SiteQuality
SIO_000300: 1.892397e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 6.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.36e-1

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
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GenotypeQuality
all individuals: 22297
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GenotypeQuality
all individuals: 3861
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variant carriers: 0

GenotypeQuality
all individuals: 2849
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.005833836250251e-4
allele num: 9942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.74e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.064e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

QD
type: SiteQuality
SIO_000300: 1.197e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-1

FS
type: SiteQuality
SIO_000300: 2.282e0

DP
type: SiteQuality
SIO_000300: 1.901729e6

GenotypeQuality
all individuals: 3490
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3863
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 2015
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variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.626e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

VQSLOD
type: SiteQuality
SIO_000300: 6.27e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 1.902331e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.106497313141182e-5
allele num: 16376
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9980
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65628
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.149e0

FS
type: SiteQuality
SIO_000300: 6.197e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 1.904236e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.64e0

QD
type: SiteQuality
SIO_000300: 1.147e1

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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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.066227990007921e-4
allele num: 65652
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9986
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.747e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

DP
type: SiteQuality
SIO_000300: 1.905068e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.441e0

QD
type: SiteQuality
SIO_000300: 1.389e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516484183069971e-5
allele num: 65942
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10082
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.35e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -6.07e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.91154e6

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65942
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.092360180333861e-5
allele num: 16414
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.07e-2

QD
type: SiteQuality
SIO_000300: 1.369e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

DP
type: SiteQuality
SIO_000300: 1.91154e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

FS
type: SiteQuality
SIO_000300: 4.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 266

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 29
allele frequency: 2.523933855526545e-3
allele num: 11490
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.34075723830735e-3
allele num: 898
num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 3.024803387779795e-4
allele num: 6612
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.218175173589962e-4
allele num: 16418
num of homozygotes: 0

European (Non-Finnish)
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allele count: 224
allele frequency: 3.396100548834107e-3
allele num: 65958
num of homozygotes: 0

African
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allele count: 8
allele frequency: 7.933359777865926e-4
allele num: 10084
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MQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

QD
type: SiteQuality
SIO_000300: 1.403e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

DP
type: SiteQuality
SIO_000300: 1.938381e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51437138443832e-5
allele num: 66034
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

FS
type: SiteQuality
SIO_000300: 5.86e-1

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

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.96e-1

VQSLOD
type: SiteQuality
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DP
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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bin: 9.25e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

Latino
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allele num: 11500
num of homozygotes: 0

East Asian
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allele frequency: 1.16198001394376e-4
allele num: 8606
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Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

FS
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VQSLOD
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MQRankSum
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ClippingRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511807214344027e-5
allele num: 66146
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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Other
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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 count: 1
allele frequency: 1.511670093118878e-5
allele num: 66152
num of homozygotes: 0

East Asian
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South Asian
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allele num: 16448
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
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InbreedingCoeff
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FS
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DP
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ReadPosRankSum
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Latino
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.5109391998066e-5
allele num: 66184
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10166
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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MQ
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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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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bin: 9.25e1
variant carriers: 0

African
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East Asian
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allele frequency: 0.0e0
allele num: 8616
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European (Non-Finnish)
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allele frequency: 1.509479531457553e-5
allele num: 66248
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

South Asian
type: Population
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Other
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.216e1

FS
type: SiteQuality
SIO_000300: 1.661e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.92583e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.018047926601074e-5
allele num: 66268
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.291e0

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.128e0

VQSLOD
type: SiteQuality
SIO_000300: -3.644e-1

FS
type: SiteQuality
SIO_000300: 5.894e0

DP
type: SiteQuality
SIO_000300: 1.926236e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

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: 6.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10210
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.926548e6

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.243e0

VQSLOD
type: SiteQuality
SIO_000300: -5.564e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.646e1

MQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22811
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
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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: 10250
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66402
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.366e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.002e0

FS
type: SiteQuality
SIO_000300: 6.357e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.928609e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
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allele count: 4
allele frequency: 3.901677721420211e-4
allele num: 10252
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.241e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.394e1

DP
type: SiteQuality
SIO_000300: 1.929242e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 28
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504800312998465e-5
allele num: 66454
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.929555e6

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.417e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 66502
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213592233009709e-4
allele num: 16480
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MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.64e-2

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 3.196e1

DP
type: SiteQuality
SIO_000300: 1.930289e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.66e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 8642
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 904
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QD
type: SiteQuality
SIO_000300: 1.443e1

InbreedingCoeff
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.948e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.69e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8646
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African
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allele count: 4
allele frequency: 3.865481252415926e-4
allele num: 10348
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

Latino
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allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 1.103752759381898e-3
allele num: 906
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QD
type: SiteQuality
SIO_000300: 1.309e1

FS
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele num: 66644
num of homozygotes: 0

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

East Asian
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allele num: 8646
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African
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allele frequency: 9.658103148541626e-5
allele num: 10354
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Latino
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Other
type: Population
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allele num: 906
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000210014701029e-5
allele num: 66662
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Latino
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Other
type: Population
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allele num: 906
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South Asian
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African
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East Asian
type: Population
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.66e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 4.706e0

DP
type: SiteQuality
SIO_000300: 1.934111e6

QD
type: SiteQuality
SIO_000300: 1.312e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

East Asian
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allele count: 5
allele frequency: 5.777675063554426e-4
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
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.591e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.642e1

DP
type: SiteQuality
SIO_000300: 1.935914e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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
allele num: 10404
num of homozygotes: 0

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

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

South Asian
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allele count: 1
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allele num: 16512
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

MQRankSum
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FS
type: SiteQuality
SIO_000300: 5.74e-1

DP
type: SiteQuality
SIO_000300: 1.936017e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.635e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.51e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
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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

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.537e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.15e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

DP
type: SiteQuality
SIO_000300: 1.936431e6

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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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 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

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: 10404
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Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

DP
type: SiteQuality
SIO_000300: 1.936227e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.71e0

FS
type: SiteQuality
SIO_000300: 7.671e0

MQRankSum
type: SiteQuality
SIO_000300: 4.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.454e1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e-1

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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GenotypeQuality
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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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variant carriers: 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

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: 17
allele frequency: 2.547198082109679e-4
allele num: 66740
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.28e-1

DP
type: SiteQuality
SIO_000300: 1.940282e6

FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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: 11576
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

ClippingRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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FS
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DP
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VQSLOD
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ReadPosRankSum
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QD
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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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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: 59

European (Non-Finnish)
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allele num: 66740
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Latino
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South Asian
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East Asian
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allele num: 8654
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Other
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DP
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FS
type: SiteQuality
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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num of homozygotes: 0

African
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allele num: 10406
num of homozygotes: 0

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

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

South Asian
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allele num: 16512
num of homozygotes: 0

African
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East Asian
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European (Finnish)
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

African
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allele num: 10406
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East Asian
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South Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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InbreedingCoeff
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DP
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ReadPosRankSum
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FS
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MQ
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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Latino
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South Asian
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African
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East Asian
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FS
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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East Asian
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Other
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South Asian
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MQRankSum
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MQ
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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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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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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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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Other
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ReadPosRankSum
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DP
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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FS
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BaseQRankSum
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MQRankSum
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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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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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East Asian
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Latino
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South Asian
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Other
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 66738
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African
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Latino
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South Asian
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Other
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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DP
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MQ
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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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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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Latino
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Other
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South Asian
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European (Finnish)
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African
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East Asian
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Other
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South Asian
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East Asian
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European (Finnish)
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Latino
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ReadPosRankSum
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QD
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MQ
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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African
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European (Finnish)
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Other
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Latino
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European (Non-Finnish)
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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FS
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QD
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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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South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23028
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3527
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
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: 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

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

MQ
type: SiteQuality
SIO_000300: 5.903e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.33e-1

DP
type: SiteQuality
SIO_000300: 1.940472e6

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

FS
type: SiteQuality
SIO_000300: 2.229e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.22e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.19e-1

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

GenotypeQuality
all individuals: 3936
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15365
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2020
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
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: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.88e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

DP
type: SiteQuality
SIO_000300: 1.94041e6

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2016
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3521
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 75
allele frequency: 1.124370352602543e-3
allele num: 66704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 47
allele frequency: 7.106138494103417e-3
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 6.622516556291391e-3
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.845548152634767e-4
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 1.982652e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.22e-1

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2798
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3917
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3515
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7060
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15507
bin: 9.75e1
variant carriers: 79

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 74
allele frequency: 1.109445277361319e-3
allele num: 66700
num of homozygotes: 1

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.77e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

FS
type: SiteQuality
SIO_000300: 1.124e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.976e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.312e1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

DP
type: SiteQuality
SIO_000300: 1.960494e6

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22908
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2798
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15493
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7056
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 2.999310158663508e-5
allele num: 66682
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 1.488e1

FS
type: SiteQuality
SIO_000300: 5.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

DP
type: SiteQuality
SIO_000300: 1.94922e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.31e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 2015
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3516
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2798
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2890
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15496
bin: 9.75e1
variant carriers: 7

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.239854633555421e-4
allele num: 16510
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.94894e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.787e0

QD
type: SiteQuality
SIO_000300: 1.316e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.842e0

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

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3917
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22863
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3516
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 4.14e-1

DP
type: SiteQuality
SIO_000300: 1.94846e6

QD
type: SiteQuality
SIO_000300: 1.585e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: 9.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

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

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22643
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3514
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 15505
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3913
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7030
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.39e0

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

DP
type: SiteQuality
SIO_000300: 1.947945e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 1.305e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 22643
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7030
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3514
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.509379509379509e-5
allele num: 66528
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.900792883388126e-4
allele num: 10342
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.305e0

DP
type: SiteQuality
SIO_000300: 1.947945e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.39e0

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.179e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

GenotypeQuality
all individuals: 319
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2888
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3914
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 7025
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.987e0

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

DP
type: SiteQuality
SIO_000300: 1.945698e6

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3914
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7014
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3515
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2888
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 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: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.880481179666278e-4
allele num: 10308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-1

FS
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

DP
type: SiteQuality
SIO_000300: 1.944568e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.471e1

GenotypeQuality
all individuals: 473
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2794
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3911
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 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: 12
allele frequency: 1.80728335190819e-4
allele num: 66398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

MQ
type: SiteQuality
SIO_000300: 6.019e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 1.501e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.946549e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15518
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2015
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3514
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 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: 10214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509980974239725e-5
allele num: 66226
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.204e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-2

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 1.452e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.938979e6

QD
type: SiteQuality
SIO_000300: 1.339e1

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2875
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6962
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21778
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15519
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514738404677512e-5
allele num: 66018
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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: 16510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.643e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

FS
type: SiteQuality
SIO_000300: 8.835000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.53e0

DP
type: SiteQuality
SIO_000300: 1.933572e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15520
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6958
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21752
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 66000
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.8833761612967e-5
allele num: 10118
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.443e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.54e-1

FS
type: SiteQuality
SIO_000300: 5.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

DP
type: SiteQuality
SIO_000300: 1.932961e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.05e0

GenotypeQuality
all individuals: 15520
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1129
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2871
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6956
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21671
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2794
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515702679762338e-5
allele num: 65976
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
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

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

QD
type: SiteQuality
SIO_000300: 1.448e1

DP
type: SiteQuality
SIO_000300: 1.932118e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.42e0

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.574e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21139
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2861
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2015
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6909
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3896
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3504
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526484506182262e-5
allele num: 65510
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: 6614
num of homozygotes: 0