19-41897732-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897732
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897732
    reference: chr 19
allele count: 13
allele frequency: 1.159989292406532e-4
allele num: 112070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+1060C>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13308G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.426C>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18810G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.384+14C>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.270+14C>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13308G>C
  variant of: http://identifiers.org/hgnc/986
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11947
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

19-41897733-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897733
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897733
    reference: chr 19
allele count: 2
allele frequency: 1.783294100863114e-5
allele num: 112152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18809G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.384+13C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13309G>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13309G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.270+13C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+1059C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.425C>T
  variant of: http://identifiers.org/hgnc/24662
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48605
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

19-41897751-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897751
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897751
    reference: chr 19
allele count: 2
allele frequency: 1.745474856434693e-5
allele num: 114582
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.407G>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.265G>C
  hgvsp: ENSP00000471002.1:p.Gly89Arg
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.379G>C
  hgvsp: ENSP00000221233.3:p.Gly127Arg
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18791C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13327C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+1041G>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13327C>G
  variant of: http://identifiers.org/hgnc/986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11946
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48607
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly127Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

19-41897751-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897751
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897751
    reference: chr 19
allele count: 5
allele frequency: 4.363687141086733e-5
allele num: 114582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+1041G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.265G>A
  hgvsp: ENSP00000471002.1:p.Gly89Ser
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13327C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.407G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.379G>A
  hgvsp: ENSP00000221233.3:p.Gly127Ser
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13327C>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18791C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11946
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly127Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

19-41897752-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897752
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897752
    reference: chr 19
allele count: 1
allele frequency: 8.68266592574584e-6
allele num: 115172
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13328G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18790G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.264C>T
  hgvsp: ENST00000596905.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13328G>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.378C>T
  hgvsp: ENST00000221233.4:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.406C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+1040C>T
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11946
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48608
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala126Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

19-41897755-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897755
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897755
    reference: chr 19
allele count: 1
allele frequency: 8.626490226186574e-6
allele num: 115922
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.375T>C
  hgvsp: ENST00000221233.4:c.375T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.261T>C
  hgvsp: ENST00000596905.1:c.261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+1037T>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13331A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13331A>G
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18787A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.403T>C
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp125Asp
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

19-41897758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897758
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897758
    reference: chr 19
allele count: 3
allele frequency: 2.571840065839106e-5
allele num: 116648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.400C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13334G>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.372C>T
  hgvsp: ENST00000221233.4:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18784G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+1034C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13334G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.258C>T
  hgvsp: ENST00000596905.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4918
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser124Ser
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

19-41897762-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897762
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897762
    reference: chr 19
allele count: 1
allele frequency: 8.503256747334228e-6
allele num: 117602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.254T>C
  hgvsp: ENSP00000471002.1:p.Val85Ala
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18780A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.396T>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13338A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.368T>C
  hgvsp: ENSP00000221233.3:p.Val123Ala
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13338A>G
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+1030T>C
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val123Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-41897764-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897764
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897764
    reference: chr 19
allele count: 5
allele frequency: 4.242753377231689e-5
allele num: 117848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13340A>G
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+1028T>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18778A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.366T>C
  hgvsp: ENST00000221233.4:c.366T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.252T>C
  hgvsp: ENST00000596905.1:c.252T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.394T>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13340A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11949
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48634
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5448
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val122Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-41897765-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897765
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897765
    reference: chr 19
allele count: 1
allele frequency: 8.480181815098116e-6
allele num: 117922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18777A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.251T>A
  hgvsp: ENSP00000471002.1:p.Val84Asp
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13341A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.365T>A
  hgvsp: ENSP00000221233.3:p.Val122Asp
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+1027T>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13341A>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.393T>A
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val122Asp
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

19-41897770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897770
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897770
    reference: chr 19
allele count: 1
allele frequency: 8.449656943928076e-6
allele num: 118348
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13346C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.246G>A
  hgvsp: ENST00000596905.1:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.388G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+1022G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.360G>A
  hgvsp: ENST00000221233.4:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13346C>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18772C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu120Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-41897777-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897777
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897777
    reference: chr 19
allele count: 1
allele frequency: 8.418358756776778e-6
allele num: 118788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.239T>C
  hgvsp: ENSP00000471002.1:p.Val80Ala
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.353T>C
  hgvsp: ENSP00000221233.3:p.Val118Ala
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+1015T>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18765A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13353A>G
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13353A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.381T>C
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val118Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

19-41897778-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897778
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897778
    reference: chr 19
allele count: 9
allele frequency: 7.574864914909017e-5
allele num: 118814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.238G>A
  hgvsp: ENSP00000471002.1:p.Val80Met
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.380G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13354C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.352G>A
  hgvsp: ENSP00000221233.3:p.Val118Met
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13354C>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18764C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+1014G>A
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11950
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val118Met
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

19-41897779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897779
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897779
    reference: chr 19
allele count: 1
allele frequency: 8.411560849231184e-6
allele num: 118884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13355G>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.237C>T
  hgvsp: ENST00000596905.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.351C>T
  hgvsp: ENST00000221233.4:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+1013C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.379C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18763G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13355G>A
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48655
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr117Thr
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

19-41897783-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897783
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897783
    reference: chr 19
allele count: 1
allele frequency: 8.400678774845007e-6
allele num: 119038
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.347T>A
  hgvsp: ENSP00000221233.3:p.Ile116Asn
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13359A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18759A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.233T>A
  hgvsp: ENSP00000471002.1:p.Ile78Asn
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.375T>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+1009T>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13359A>T
  variant of: http://identifiers.org/hgnc/986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11947
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48656
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile116Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

19-41897789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897789
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897789
    reference: chr 19
allele count: 9
allele frequency: 7.558071180234804e-5
allele num: 119078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.369C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18753G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.341C>T
  hgvsp: ENSP00000221233.3:p.Thr114Ile
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13365G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13365G>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+1003C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.227C>T
  hgvsp: ENSP00000471002.1:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11952
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr114Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

19-41897792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897792
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897792
    reference: chr 19
allele count: 1
allele frequency: 8.394473078924836e-6
allele num: 119126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+1000G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13368C>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.224G>A
  hgvsp: ENSP00000471002.1:p.Arg75His
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18750C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13368C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.366G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.338G>A
  hgvsp: ENSP00000221233.3:p.Arg113His
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg113His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-41897793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897793
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897793
    reference: chr 19
allele count: 1
allele frequency: 8.39066957543212e-6
allele num: 119180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.365C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13369G>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+999C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18749G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13369G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.223C>T
  hgvsp: ENSP00000471002.1:p.Arg75Cys
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.337C>T
  hgvsp: ENSP00000221233.3:p.Arg113Cys
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48661
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg113Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

19-41897798-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897798
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897798
    reference: chr 19
allele count: 2
allele frequency: 1.677542735401184e-5
allele num: 119222
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13374T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.218A>T
  hgvsp: ENSP00000471002.1:p.His73Leu
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+994A>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18744T>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.332A>T
  hgvsp: ENSP00000221233.3:p.His111Leu
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.398A>T
  hgvsp: ENSP00000471557.1:p.His133Leu
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.360A>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13374T>A
  variant of: http://identifiers.org/hgnc/986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His111Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-41897803-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897803
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897803
    reference: chr 19
allele count: 1
allele frequency: 8.384197464618687e-6
allele num: 119272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.213G>T
  hgvsp: ENST00000596905.1:c.213G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.355G>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18739C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13379C>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.393G>T
  hgvsp: ENST00000593771.1:c.393G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+989G>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13379C>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.327G>T
  hgvsp: ENST00000221233.4:c.327G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr109Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

19-41897803-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897803
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897803
    reference: chr 19
allele count: 11
allele frequency: 9.222617211080555e-5
allele num: 119272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18739C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13379C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.213G>A
  hgvsp: ENST00000596905.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13379C>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+989G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.393G>A
  hgvsp: ENST00000593771.1:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.355G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.327G>A
  hgvsp: ENST00000221233.4:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr109Thr
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

19-41897804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897804
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897804
    reference: chr 19
allele count: 5
allele frequency: 4.191606726690475e-5
allele num: 119286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18738G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.354C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.392C>T
  hgvsp: ENSP00000471557.1:p.Thr131Met
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.326C>T
  hgvsp: ENSP00000221233.3:p.Thr109Met
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+988C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13380G>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13380G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.212C>T
  hgvsp: ENSP00000471002.1:p.Thr71Met
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11949
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr109Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

19-41897814-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897814
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897814
    reference: chr 19
allele count: 1
allele frequency: 8.38447865311735e-6
allele num: 119268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.382G>A
  hgvsp: ENSP00000471557.1:p.Val128Met
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.316G>A
  hgvsp: ENSP00000221233.3:p.Val106Met
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13390C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.202G>A
  hgvsp: ENSP00000471002.1:p.Val68Met
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18728C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.344G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13390C>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+978G>A
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11949
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val106Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-41897815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897815
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897815
    reference: chr 19
allele count: 2
allele frequency: 1.677317633640282e-5
allele num: 119238
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13391C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.315G>A
  hgvsp: ENST00000221233.4:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.201G>A
  hgvsp: ENST00000596905.1:c.201G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.343G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13391C>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.381G>A
  hgvsp: ENST00000593771.1:c.381G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+977G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18727C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11951
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val105Val
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

19-41897823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897823
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897823
    reference: chr 19
allele count: 3
allele frequency: 2.51563888842303e-5
allele num: 119254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13399C>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+969G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.373G>A
  hgvsp: ENSP00000471557.1:p.Glu125Lys
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18719C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.307G>A
  hgvsp: ENSP00000221233.3:p.Glu103Lys
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.335G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.193G>A
  hgvsp: ENSP00000471002.1:p.Glu65Lys
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13399C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11952
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu103Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

19-41897824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897824
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897824
    reference: chr 19
allele count: 8
allele frequency: 6.708932944215222e-5
allele num: 119244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.192C>T
  hgvsp: ENST00000596905.1:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+968C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.334C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.306C>T
  hgvsp: ENST00000221233.4:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13400G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.372C>T
  hgvsp: ENST00000593771.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18718G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13400G>A
  variant of: http://identifiers.org/hgnc/986
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11956
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys102Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

19-41897827-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897827
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897827
    reference: chr 19
allele count: 2
allele frequency: 1.677542735401184e-5
allele num: 119222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.369G>A
  hgvsp: ENST00000593771.1:c.369G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+965G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13403C>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.189G>A
  hgvsp: ENST00000596905.1:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13403C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.303G>A
  hgvsp: ENST00000221233.4:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18715C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.331G>A
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr101Thr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-41897828-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897828
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897828
    reference: chr 19
allele count: 1
allele frequency: 8.387291575804341e-6
allele num: 119228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.330C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13404G>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+964C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.188C>T
  hgvsp: ENSP00000471002.1:p.Thr63Met
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.302C>T
  hgvsp: ENSP00000221233.3:p.Thr101Met
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.368C>T
  hgvsp: ENSP00000471557.1:p.Thr123Met
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13404G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18714G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11956
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48686
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr101Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

19-41897828-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897828
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897828
    reference: chr 19
allele count: 2
allele frequency: 1.677458315160868e-5
allele num: 119228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13404G>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13404G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.188C>A
  hgvsp: ENSP00000471002.1:p.Thr63Lys
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.302C>A
  hgvsp: ENSP00000221233.3:p.Thr101Lys
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18714G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.368C>A
  hgvsp: ENSP00000471557.1:p.Thr123Lys
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.330C>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+964C>A
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11956
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5703
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48686
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr101Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

19-41897829-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897829
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897829
    reference: chr 19
allele count: 1
allele frequency: 8.387432271484408e-6
allele num: 119226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18713T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.301A>G
  hgvsp: ENSP00000221233.3:p.Thr101Ala
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.367A>G
  hgvsp: ENSP00000471557.1:p.Thr123Ala
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13405T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.329A>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13405T>C
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.187A>G
  hgvsp: ENSP00000471002.1:p.Thr63Ala
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+963A>G
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr101Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

19-41897836-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897836
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897836
    reference: chr 19
allele count: 1
allele frequency: 8.401102224611869e-6
allele num: 119032
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.180C>G
  hgvsp: ENSP00000471002.1:p.Ile60Met
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18706G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.294C>G
  hgvsp: ENSP00000221233.3:p.Ile98Met
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13412G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.360C>G
  hgvsp: ENSP00000471557.1:p.Ile120Met
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.322C>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13412G>C
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+956C>G
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11953
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile98Met
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS

19-41897839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897839
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897839
    reference: chr 19
allele count: 1
allele frequency: 8.404491360182881e-6
allele num: 118984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13415C>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.357G>A
  hgvsp: ENST00000593771.1:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.291G>A
  hgvsp: ENST00000221233.4:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.177G>A
  hgvsp: ENST00000596905.1:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.319G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13415C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18703C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+953G>A
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu97Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

19-41897843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897843
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897843
    reference: chr 19
allele count: 2
allele frequency: 1.680954782316356e-5
allele num: 118980
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.287G>A
  hgvsp: ENSP00000221233.3:p.Arg96Gln
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.353G>A
  hgvsp: ENSP00000471557.1:p.Arg118Gln
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.173G>A
  hgvsp: ENSP00000471002.1:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18699C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+949G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.315G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13419C>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13419C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11953
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg96Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

19-41897844-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897844
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897844
    reference: chr 19
allele count: 3
allele frequency: 2.523086239087652e-5
allele num: 118902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18698G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+948C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.286C>T
  hgvsp: ENSP00000221233.3:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13420G>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.352C>T
  hgvsp: ENSP00000471557.1:p.Arg118Trp
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13420G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.314C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.172C>T
  hgvsp: ENSP00000471002.1:p.Arg58Trp
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg96Trp
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

19-41897846-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897846
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897846
    reference: chr 19
allele count: 1
allele frequency: 8.413400864897609e-6
allele num: 118858
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.284A>T
  hgvsp: ENSP00000221233.3:p.Glu95Val
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18696T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+946A>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.170A>T
  hgvsp: ENSP00000471002.1:p.Glu57Val
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13422T>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.312A>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.350A>T
  hgvsp: ENSP00000471557.1:p.Glu117Val
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13422T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11955
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu95Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

19-41897850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897850
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897850
    reference: chr 19
allele count: 2
allele frequency: 1.683133320990356e-5
allele num: 118826
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.280C>T
  hgvsp: ENSP00000221233.3:p.Arg94Trp
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13426G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.166C>T
  hgvsp: ENSP00000471002.1:p.Arg56Trp
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.346C>T
  hgvsp: ENSP00000471557.1:p.Arg116Trp
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.308C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18692G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+942C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13426G>A
  variant of: http://identifiers.org/hgnc/986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48687
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg94Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

19-41897872-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897872
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897872
    reference: chr 19
allele count: 1
allele frequency: 8.440100605999223e-6
allele num: 118482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18670G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13448G>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-5C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.329-5C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-5C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-5C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+920C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13448G>A
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5348
  bin: 6.25e1
  variant carriers: 0
hgvs: c.263-5C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-41897885-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897885
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897885
    reference: chr 19
allele count: 7
allele frequency: 5.913360816381699e-5
allele num: 118376
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-18T>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.329-18T>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-18T>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+907T>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13461A>C
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13461A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18657A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-18T>G
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

19-41897893-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897893
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897893
    reference: chr 19
allele count: 1
allele frequency: 8.457947087083023e-6
allele num: 118232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-26C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13469G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-26C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18649G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13469G>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+899C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.329-26C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-26C>T
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

19-41897894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897894
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897894
    reference: chr 19
allele count: 3
allele frequency: 2.538156959626383e-5
allele num: 118196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+898C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13470G>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18648G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-27C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.329-27C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-27C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-27C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13470G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

19-41897896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897896
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897896
    reference: chr 19
allele count: 2
allele frequency: 1.692305088761402e-5
allele num: 118182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-29G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18646C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.329-29G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13472C>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-29G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13472C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-29G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+896G>A
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11955
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-41897912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897912
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897912
    reference: chr 19
allele count: 1
allele frequency: 8.49285750683675e-6
allele num: 117746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-45G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-45G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+880G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18630C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13488C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13488C>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.329-45G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-45G>A
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

19-41897916-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897916
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897916
    reference: chr 19
allele count: 1
allele frequency: 8.495454931611589e-6
allele num: 117710
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13492C>G
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-49G>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-49G>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13492C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18626C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+876G>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-49G>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.329-49G>C
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4264
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-41897917-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897917
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897917
    reference: chr 19
allele count: 3
allele frequency: 2.54993625159371e-5
allele num: 117650
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-50G>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.329-50G>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18625C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-50G>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+875G>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-50G>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13493C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13493C>A
  variant of: http://identifiers.org/hgnc/986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11955
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48693
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

19-41897917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897917
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897917
    reference: chr 19
allele count: 1
allele frequency: 8.499787505312367e-6
allele num: 117650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-50G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13493C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-50G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+875G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.329-50G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18625C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13493C>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-50G>A
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11955
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48693
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-41897936-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897936
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897936
    reference: chr 19
allele count: 2
allele frequency: 1.751620248730075e-5
allele num: 114180
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-69G>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13512C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-69G>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+856G>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18606C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13512C>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.328+50G>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-69G>T
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

19-41897948-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897948
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897948
    reference: chr 19
allele count: 19
allele frequency: 1.67924628356283e-4
allele num: 113146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-81T>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13524A>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-81T>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+844T>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13524A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18594A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-81T>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.328+38T>A
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31223
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

19-41897956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897956
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897956
    reference: chr 19
allele count: 1
allele frequency: 9.008197459688316e-6
allele num: 111010
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13532C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18586C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-89G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+836G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-89G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.328+30G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-89G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13532C>T
  variant of: http://identifiers.org/hgnc/986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

19-41897958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897958
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897958
    reference: chr 19
allele count: 1
allele frequency: 9.072105091265377e-6
allele num: 110228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13534C>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+834G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18584C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13534C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-91G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-91G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-91G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.328+28G>A
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7810
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

19-41897959-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897959
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897959
    reference: chr 19
allele count: 1
allele frequency: 9.073586788857636e-6
allele num: 110210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+833C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-92C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13535G>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13535G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-92C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18583G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.328+27C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-92C>T
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10824
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

19-41897959-GGTCTCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897959
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897953
    reference: chr 19
allele count: 1
allele frequency: 9.073586788857636e-6
allele num: 110210
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.328+21_328+26delTGAGAC
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-98_263-93delTGAGAC
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-98_149-93delTGAGAC
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+827_170+832delTGAGAC
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-98_291-93delTGAGAC
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: GGTCTCA
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

19-41897975-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897975
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897975
    reference: chr 19
allele count: 1
allele frequency: 9.862905611993294e-6
allele num: 101390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-108C>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-108C>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.328+11C>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18567G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+817C>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13551G>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-108C>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13551G>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-41897985-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897985
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897985
    reference: chr 19
allele count: 1
allele frequency: 1.081689165801315e-5
allele num: 92448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.328+1G>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13561C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-118G>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13561C>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-118G>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18557C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+807G>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-118G>T
  variant of: http://identifiers.org/hgnc/24662
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11430
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 7.5e0
  variant carriers: 0
hgvs: c.328+1G>T
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

19-41897990-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897990
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897990
    reference: chr 19
allele count: 70
allele frequency: 8.053567730504613e-4
allele num: 86918
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-123T>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13566A>G
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-123T>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13566A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+802T>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.324T>C
  hgvsp: ENST00000593771.1:c.324T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-123T>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18552A>G
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14289
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15456
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro108Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

19-41897990-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897990
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897989
    reference: chr 19
allele count: 1
allele frequency: 1.150509675786373e-5
allele num: 86918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.323delC
  hgvsp: ENSP00000471557.1:p.Pro108LeufsTer12
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13569delG
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13569delG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-124delC
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-124delC
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18549delG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+801delC
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-124delC
  variant of: http://identifiers.org/hgnc/24662
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro108LeufsTer12
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: AG
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-41897991-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897991
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897991
    reference: chr 19
allele count: 1
allele frequency: 1.163981748766179e-5
allele num: 85912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.323C>T
  hgvsp: ENSP00000471557.1:p.Pro108Leu
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13567G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13567G>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-124C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18551G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+801C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-124C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-124C>T
  variant of: http://identifiers.org/hgnc/24662
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14818
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro108Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

19-41897998-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41897998
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41897998
    reference: chr 19
allele count: 1
allele frequency: 1.268166484896137e-5
allele num: 78854
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.316A>G
  hgvsp: ENSP00000471557.1:p.Ile106Val
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+794A>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-131A>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18544T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13574T>C
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-131A>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-131A>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13574T>C
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29930
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4673
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile106Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

19-41898000-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41898000
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41898000
    reference: chr 19
allele count: 1
allele frequency: 1.332871271292619e-5
allele num: 75026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.314C>G
  hgvsp: ENSP00000471557.1:p.Ser105Cys
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-133C>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13576G>C
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18542G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-133C>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+792C>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13576G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-133C>G
  variant of: http://identifiers.org/hgnc/24662
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5206
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31920
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser105Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

19-41898005-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41898005
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41898005
    reference: chr 19
allele count: 1
allele frequency: 1.421908770333295e-5
allele num: 70328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-138A>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.309A>T
  hgvsp: ENSP00000471557.1:p.Glu103Asp
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+787A>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13581T>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-138A>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13581T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18537T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-138A>T
  variant of: http://identifiers.org/hgnc/24662
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu103Asp
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

19-41898010-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41898010
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41898010
    reference: chr 19
allele count: 1
allele frequency: 1.599436998176642e-5
allele num: 62522
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13586G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-143C>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+782C>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.304C>G
  hgvsp: ENSP00000471557.1:p.Leu102Val
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13586G>C
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18532G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-143C>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-143C>G
  variant of: http://identifiers.org/hgnc/24662
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21083
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7986
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35941
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6462
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu102Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

19-41898014-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41898014
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41898014
    reference: chr 19
allele count: 1
allele frequency: 1.729266099467386e-5
allele num: 57828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-147C>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13590G>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13590G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-147C>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.300C>A
  hgvsp: ENSP00000471557.1:p.Phe100Leu
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-147C>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18528G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+778C>A
  variant of: http://identifiers.org/hgnc/24662
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8917
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9403
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe100Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

19-41898026-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41898026
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41898026
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 38500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-159C>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13602G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-159C>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+766C>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13602G>C
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.288C>G
  hgvsp: ENST00000593771.1:c.288C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-159C>G
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18516G>C
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15961
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22575
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16889
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly96Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-41898034-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41898034
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41898034
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 26316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18508G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-167C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+758C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13610G>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-167C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13610G>A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.280C>T
  hgvsp: ENSP00000471557.1:p.Gln94Ter
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-167C>T
  variant of: http://identifiers.org/hgnc/24662
canonical: false
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22343
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln94Ter
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

19-41898039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41898039
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41898039
    reference: chr 19
allele count: 1
allele frequency: 4.372922861640721e-5
allele num: 22868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13615C>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.275G>A
  hgvsp: ENSP00000471557.1:p.Gly92Glu
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18503C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13615C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-172G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+753G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-172G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-172G>A
  variant of: http://identifiers.org/hgnc/24662
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23794
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24610
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly92Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

19-41898058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41898058
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41898058
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 7910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18484C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-191G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13634C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-191G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13634C>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.263-7G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+734G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-191G>A
  variant of: http://identifiers.org/hgnc/24662
canonical: false
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14171
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
hgvs: c.263-7G>A
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

19-41898067-ACCAAGGGAACCAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41898067
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41898054
    reference: chr 19
allele count: 1
allele frequency: 1.88465887674331e-4
allele num: 5306
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7764
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3613
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: ACCAAGGGAACCAT
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-41898078-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41898078
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41898078
    reference: chr 19
allele count: 1
allele frequency: 2.602811035918792e-4
allele num: 3842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-211G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18464C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-211G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+714G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.263-27G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13654C>T
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-211G>A
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13654C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5451
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4550
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-41898088-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41898088
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41898088
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 2718
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.263-221T>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-18454A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-221T>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+704T>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+13664A>G
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.291-221T>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+13664A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.263-37T>C
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 36930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

19-41898722-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41898722
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41898722
    reference: chr 19
allele count: 2
allele frequency: 1.828153564899452e-5
allele num: 109400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.262+50A>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+70A>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-855A>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.262+50A>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+14298T>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-17820T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.290+50A>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+14298T>A
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 9661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15492
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5712
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4997
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

19-41898722-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41898722
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41898722
    reference: chr 19
allele count: 9
allele frequency: 8.226691042047532e-5
allele num: 109400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+14298T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+14298T>G
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-17820T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-855A>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.290+50A>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.262+50A>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.262+50A>C
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+70A>C
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15731
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15492
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5757
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4243
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4997
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5712
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

19-41898723-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41898723
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41898723
    reference: chr 19
allele count: 2
allele frequency: 1.739281676667536e-5
allele num: 114990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471002
  ensembl transcript: ENST00000596905
  gene symbol: EXOSC5
  hgvsc: ENST00000596905.1:c.149-856C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl transcript: ENST00000593523
  gene symbol: EXOSC5
  hgvsc: ENST00000593523.1:n.290+49C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000221233
  ensembl transcript: ENST00000221233
  gene symbol: EXOSC5
  hgvsc: ENST00000221233.4:c.262+49C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000472396
  ensembl transcript: ENST00000602129
  gene symbol: EXOSC5
  hgvsc: ENST00000602129.1:c.170+69C>T
  variant of: http://identifiers.org/hgnc/24662
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000248098
  ensembl protein: ENSP00000471150
  ensembl transcript: ENST00000595085
  gene symbol: BCKDHA
  hgvsc: ENST00000595085.1:c.210+14299G>A
  variant of: http://identifiers.org/hgnc/986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl protein: ENSP00000443246
  ensembl transcript: ENST00000540732
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000540732.1:c.210+14299G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255730
  ensembl transcript: ENST00000604424
  gene symbol: CTC-435M10.3
  hgvsc: ENST00000604424.1:n.351-17819G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077348
  ensembl protein: ENSP00000471557
  ensembl transcript: ENST00000593771
  gene symbol: EXOSC5
  hgvsc: ENST00000593771.1:c.262+49C>T
  variant of: http://identifiers.org/hgnc/24662
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11719
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9552
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4461
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 730
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48603
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578980610118108e-5
allele num: 63332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

East Asian
type: Population
allele count: 12
allele frequency: 1.422812425895186e-3
allele num: 8434
num of homozygotes: 0

South Asian
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: 816
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

FS
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.128e1

DP
type: SiteQuality
SIO_000300: 4.136864e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.321e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.157063930544593e-5
allele num: 63350
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.354e1

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.528e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 4.024e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 4.137628e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 343
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3317
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13326
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.128715349477504e-5
allele num: 63924
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 4.161968e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

FS
type: SiteQuality
SIO_000300: 2.494e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

QD
type: SiteQuality
SIO_000300: 1.423e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

GenotypeQuality
all individuals: 145
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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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
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 48607
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 745
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.002606777621817e-4
allele num: 9974
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.5008254539997e-4
allele num: 13326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.128715349477504e-5
allele num: 63924
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: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

QD
type: SiteQuality
SIO_000300: 1.423e1

MQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

DP
type: SiteQuality
SIO_000300: 4.161968e6

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

FS
type: SiteQuality
SIO_000300: 2.494e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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
all individuals: 3147
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560695445890689e-5
allele num: 64074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 4.167172e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

VQSLOD
type: SiteQuality
SIO_000300: 4.13e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
all individuals: 166
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 363
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 7.030371203599551e-5
allele num: 14224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64280
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.709e0

FS
type: SiteQuality
SIO_000300: 7.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

QD
type: SiteQuality
SIO_000300: 1.487e1

MQRankSum
type: SiteQuality
SIO_000300: -6.47e-1

DP
type: SiteQuality
SIO_000300: 4.175039e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.91e-1

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
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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: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1002
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.966115208291808e-5
allele num: 10034
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.7842605156038e-5
allele num: 14740
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.713837574067619e-5
allele num: 11476
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64448
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.49e-1

DP
type: SiteQuality
SIO_000300: 4.18424e6

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

FS
type: SiteQuality
SIO_000300: 5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

QD
type: SiteQuality
SIO_000300: 1.64e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
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variant carriers: 0

GenotypeQuality
all individuals: 323
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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
all individuals: 48623
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variant carriers: 1

GenotypeQuality
all individuals: 456
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15364
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.94431185361973e-5
allele num: 10056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64744
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 7.353e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

DP
type: SiteQuality
SIO_000300: 4.194428e6

QD
type: SiteQuality
SIO_000300: 1.407e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 300
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GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.221649484536082e-4
allele num: 15520
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

FS
type: SiteQuality
SIO_000300: 1.1625e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.197353e6

VQSLOD
type: SiteQuality
SIO_000300: -1.221e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.247e0

QD
type: SiteQuality
SIO_000300: 1.169e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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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
all individuals: 111
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variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.948269001193792e-5
allele num: 10052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15586
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64840
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.78e-2

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

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.392e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 48636
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variant carriers: 1

GenotypeQuality
all individuals: 5549
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.311537490532694e-5
allele num: 15844
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

DP
type: SiteQuality
SIO_000300: 4.203714e6

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.872e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.5e-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
all individuals: 72
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 48651
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65134
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.497e1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.163e0

FS
type: SiteQuality
SIO_000300: 1.085e0

VQSLOD
type: SiteQuality
SIO_000300: 6.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 610
bin: 7.75e1
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GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5613
bin: 6.25e1
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GenotypeQuality
all individuals: 48653
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 163
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.198090987975704e-5
allele num: 16134
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.930486593843098e-5
allele num: 10070
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177301624676242e-4
allele num: 8494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.210647508519849e-5
allele num: 65142
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 4.209709e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5492
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16170
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: 1.534495457893445e-5
allele num: 65168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.836e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.699e0

DP
type: SiteQuality
SIO_000300: 4.209753e6

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 2.65e0

MQ
type: SiteQuality
SIO_000300: 5.426e1

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

GenotypeQuality
all individuals: 103
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 534
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variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
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variant carriers: 0

GenotypeQuality
all individuals: 5695
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65230
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.159911297277319e-5
allele num: 16234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.28e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

QD
type: SiteQuality
SIO_000300: 1.38e1

DP
type: SiteQuality
SIO_000300: 4.211307e6

VQSLOD
type: SiteQuality
SIO_000300: 8.63e-1

GenotypeQuality
all individuals: 48655
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 1293
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GenotypeQuality
all individuals: 538
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variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.066920198736429e-5
allele num: 65212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.088015307009915e-4
allele num: 11498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-3

FS
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.278e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.859e0

DP
type: SiteQuality
SIO_000300: 4.21283e6

GenotypeQuality
all individuals: 216
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5648
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48657
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 355
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variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53275497378989e-5
allele num: 65242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.712e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.274e1

DP
type: SiteQuality
SIO_000300: 4.214124e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
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GenotypeQuality
all individuals: 652
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variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532473105097006e-5
allele num: 65254
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.48e-1

FS
type: SiteQuality
SIO_000300: 2.796e0

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

QD
type: SiteQuality
SIO_000300: 1.457e1

DP
type: SiteQuality
SIO_000300: 4.215157e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

GenotypeQuality
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
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variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 1314
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variant carriers: 0

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 220
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variant carriers: 0

GenotypeQuality
all individuals: 562
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variant carriers: 0

GenotypeQuality
all individuals: 83
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GenotypeQuality
all individuals: 5770
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variant carriers: 0

GenotypeQuality
all individuals: 48664
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 560
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.064288778574493e-5
allele num: 65268
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.216051e6

QD
type: SiteQuality
SIO_000300: 1.032e1

FS
type: SiteQuality
SIO_000300: 1.903e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.97e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.73e-1

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
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GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 563
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GenotypeQuality
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GenotypeQuality
all individuals: 181
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GenotypeQuality
all individuals: 361
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GenotypeQuality
all individuals: 106
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variant carriers: 0

GenotypeQuality
all individuals: 48670
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 674
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GenotypeQuality
all individuals: 573
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65282
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 4.217119e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

GenotypeQuality
all individuals: 208
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
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GenotypeQuality
all individuals: 1342
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
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variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
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GenotypeQuality
all individuals: 48670
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 573
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GenotypeQuality
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GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 674
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variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.267772222899646e-4
allele num: 16402
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.127263257865874e-5
allele num: 65282
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
SIO_000300: 1.179e1

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.55e-1

DP
type: SiteQuality
SIO_000300: 4.217119e6

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5820
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GenotypeQuality
all individuals: 107
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GenotypeQuality
all individuals: 1336
bin: 6.75e1
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GenotypeQuality
all individuals: 48674
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variant carriers: 5

GenotypeQuality
all individuals: 178
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GenotypeQuality
all individuals: 363
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GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 62
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GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 575
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531721961829489e-5
allele num: 65286
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.711425206124853e-4
allele num: 8490
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 4.217392e6

QD
type: SiteQuality
SIO_000300: 1.325e1

GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48677
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.078288353999514e-5
allele num: 16452
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.15e-1

DP
type: SiteQuality
SIO_000300: 4.215965e6

FS
type: SiteQuality
SIO_000300: 5.178e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.714e-1

QD
type: SiteQuality
SIO_000300: 7.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5446
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GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.066073892380806e-5
allele num: 65230
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

DP
type: SiteQuality
SIO_000300: 4.215994e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.031e0

FS
type: SiteQuality
SIO_000300: 6.63e0

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

QD
type: SiteQuality
SIO_000300: 1.192e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
all individuals: 48684
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 583
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.599251855031581e-5
allele num: 65228
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.292e1

FS
type: SiteQuality
SIO_000300: 1.369e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

DP
type: SiteQuality
SIO_000300: 4.216537e6

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.418e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeQuality
all individuals: 159
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1405
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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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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.920634920634921e-5
allele num: 10080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.599533913896725e-5
allele num: 65224
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.178689297501179e-4
allele num: 8484
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.821936110773715e-4
allele num: 16466
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

FS
type: SiteQuality
SIO_000300: 5.269e0

QD
type: SiteQuality
SIO_000300: 1.268e1

DP
type: SiteQuality
SIO_000300: 4.21705e6

GenotypeQuality
all individuals: 572
bin: 8.25e1
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

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
all individuals: 48687
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533554165133113e-5
allele num: 65208
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.216797e6

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

FS
type: SiteQuality
SIO_000300: 5.39e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.024e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.952e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65208
num of homozygotes: 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: 11500
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.922603691208574e-5
allele num: 10078
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.088e0

VQSLOD
type: SiteQuality
SIO_000300: 8.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

DP
type: SiteQuality
SIO_000300: 4.217045e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

GenotypeQuality
all individuals: 195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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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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variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65208
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.739130434782609e-4
allele num: 11500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.088e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 4.217045e6

VQSLOD
type: SiteQuality
SIO_000300: 8.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.31e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.89e-1

DP
type: SiteQuality
SIO_000300: 4.216813e6

QD
type: SiteQuality
SIO_000300: 1.184e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
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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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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 7.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536098310291859e-5
allele num: 65100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: -4.7e-2

DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: 9.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

FS
type: SiteQuality
SIO_000300: 3.699e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.75e1
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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65088
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.192e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e-1

BaseQRankSum
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SIO_000300: -2.691e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.93e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

VQSLOD
type: SiteQuality
SIO_000300: 8.44e-1

DP
type: SiteQuality
SIO_000300: 4.215114e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65088
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.004621257785815e-4
allele num: 9954
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

QD
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SIO_000300: 1.226e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 4.214756e6

FS
type: SiteQuality
SIO_000300: 3.016e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.007658202337767e-4
allele num: 9924
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537562655678219e-5
allele num: 65038
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.656e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.341e0

DP
type: SiteQuality
SIO_000300: 4.214536e6

FS
type: SiteQuality
SIO_000300: 5.22e-1

QD
type: SiteQuality
SIO_000300: 1.467e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: 8.69e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65016
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.832e0

VQSLOD
type: SiteQuality
SIO_000300: -6.25e-2

FS
type: SiteQuality
SIO_000300: 1.785e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.88e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.318e1

DP
type: SiteQuality
SIO_000300: 4.214019e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9902
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538461538461538e-5
allele num: 65000
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 2.427e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.213794e6

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
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African
type: Population
allele count: 1
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allele num: 9818
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South Asian
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64768
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.165e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
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SIO_000300: 5.956e1

ClippingRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele frequency: 2.36854571293226e-4
allele num: 8444
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African
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allele frequency: 2.039151712887439e-4
allele num: 9808
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.706251088281386e-5
allele num: 11486
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 888
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South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545738399233314e-5
allele num: 64694
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.138e1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 5.620000000000001e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 4.206312e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
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South Asian
type: Population
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.547939692269589e-5
allele num: 64602
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.773e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.961e1

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.645832688078794e-5
allele num: 64574
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
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African
type: Population
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South Asian
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.249e0

VQSLOD
type: SiteQuality
SIO_000300: 9.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.81e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
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: 8438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215953307392996e-4
allele num: 16448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64544
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 6.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.601e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.003e0

QD
type: SiteQuality
SIO_000300: 9.15e0

DP
type: SiteQuality
SIO_000300: 4.201808e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

GenotypeQuality
all individuals: 238
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516990291262136e-4
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.61e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

VQSLOD
type: SiteQuality
SIO_000300: 9.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.933e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

FS
type: SiteQuality
SIO_000300: 1.337e0

DP
type: SiteQuality
SIO_000300: 4.196948e6

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.556226462074761e-5
allele num: 64258
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.196791e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.397e1

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556953353677524e-5
allele num: 64228
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.376990729736154e-4
allele num: 8414
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.292e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.09e-1

QD
type: SiteQuality
SIO_000300: 1.047e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.44e0

VQSLOD
type: SiteQuality
SIO_000300: 9.419999999999999e-1

DP
type: SiteQuality
SIO_000300: 4.196885e6

GenotypeQuality
all individuals: 4190
bin: 6.25e1
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

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: 1140
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64228
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.047e1

FS
type: SiteQuality
SIO_000300: 2.292e0

DP
type: SiteQuality
SIO_000300: 4.196885e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.419999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.211716341212744e-5
allele num: 62272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8264
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.394e1

MQRankSum
type: SiteQuality
SIO_000300: -1.088e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.779e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.585664e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.770224818551956e-4
allele num: 11298
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.492507492507493e-4
allele num: 16016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.090876727402182e-5
allele num: 61798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.562664e6

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

FS
type: SiteQuality
SIO_000300: 2.107e0

QD
type: SiteQuality
SIO_000300: 1.317e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.402868485081316e-5
allele num: 15618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.539e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

QD
type: SiteQuality
SIO_000300: 9.82e0

DP
type: SiteQuality
SIO_000300: 1.515824e6

GenotypeQuality
all individuals: 320
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.65694591728526e-5
allele num: 60352
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10992
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

DP
type: SiteQuality
SIO_000300: 1.498121e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 403
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GenotypeQuality
all individuals: 1321
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.451612903225807e-5
allele num: 15500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 1.495269e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.47e0

QD
type: SiteQuality
SIO_000300: 1.712e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7777
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 15500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.657879903179814e-5
allele num: 60318
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

DP
type: SiteQuality
SIO_000300: 1.495269e6

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.47e0

QD
type: SiteQuality
SIO_000300: 1.712e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7506
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.019991840065279e-4
allele num: 9804
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.315286e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 3.058e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.868e0

QD
type: SiteQuality
SIO_000300: 1.332e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.043e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6668
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6884
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.94912559618442e-5
allele num: 12580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51508
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.756e0

QD
type: SiteQuality
SIO_000300: 9.84e0

MQ
type: SiteQuality
SIO_000300: 5.766e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.137e0

DP
type: SiteQuality
SIO_000300: 1.134296e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 69

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.271294177472667e-4
allele num: 7866
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.932551319648094e-3
allele num: 682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11792
num of homozygotes: 0

European (Non-Finnish)
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allele count: 66
allele frequency: 1.360151677520402e-3
allele num: 48524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.886792452830189e-4
allele num: 5300
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.3e0

QD
type: SiteQuality
SIO_000300: 1.433e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.031745e6

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.060835875030913e-5
allele num: 48524
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.3e0

DP
type: SiteQuality
SIO_000300: 1.031745e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5258
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
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11648
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.086550098067855e-5
allele num: 47926
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -9.1e-3

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.01146e6

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.17e-1

MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.271178741766977e-5
allele num: 44030
num of homozygotes: 0

South Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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QD
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.989e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Other
type: Population
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Latino
type: Population
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African
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.386293132248365e-5
allele num: 41906
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

African
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allele count: 1
allele frequency: 1.88465887674331e-4
allele num: 5306
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39162
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4452
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.45e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.6366e5

QD
type: SiteQuality
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MQRankSum
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SIO_000300: -3.4e-1

BaseQRankSum
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SIO_000300: -1.324e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.210653753026634e-4
allele num: 8260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34826
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4826
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4026
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.87e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 32258
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3732
num of homozygotes: 0

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

African
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allele frequency: 2.225189141076991e-4
allele num: 4494
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.13e-2

MQ
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DP
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BaseQRankSum
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SIO_000300: -3.914e0

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

QD
type: SiteQuality
SIO_000300: 8.449999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -3.999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.75e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2492
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 22010
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2972
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2836
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.7854e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

QD
type: SiteQuality
SIO_000300: 8.5e0

VQSLOD
type: SiteQuality
SIO_000300: -8.731e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.56e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3282
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1660
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1558
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15552
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -7.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.69e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.03318e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 5.616e1

QD
type: SiteQuality
SIO_000300: 3.74e0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1316
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1376
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 7.327080890973036e-5
allele num: 13648
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1692
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1862
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.74028e5

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.06e-2

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-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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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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allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 70
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

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

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

Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.109452736318408e-4
allele num: 3216
num of homozygotes: 0

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

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

MQRankSum
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VQSLOD
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DP
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MQ
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FS
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BaseQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 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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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 2296
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African
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Other
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East Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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MQRankSum
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FS
type: SiteQuality
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MQ
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
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DP
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 140
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 320
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 352
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European (Finnish)
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 1618
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FS
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MQ
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: -9.26e-2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2713
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10227
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4756
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10486
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.50689395838556e-4
allele num: 7978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5536
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.9e-1

FS
type: SiteQuality
SIO_000300: 3.9837e1

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.001e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.393000000000001e0

DP
type: SiteQuality
SIO_000300: 1.259889e6

GenotypeQuality
all individuals: 10227
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2083
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3089
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1998
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4756
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.581545346847439e-5
allele num: 60776
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.122838535818549e-4
allele num: 8906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.705109293281481e-5
allele num: 14914
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.907304978065993e-4
allele num: 10486
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.25344697919278e-4
allele num: 7978
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.393000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

QD
type: SiteQuality
SIO_000300: 9.9e-1

DP
type: SiteQuality
SIO_000300: 1.259889e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.001e0

FS
type: SiteQuality
SIO_000300: 3.9837e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

GenotypeQuality
all individuals: 819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4229
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2859
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 501
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3954
bin: 3.25e1
variant carriers: 0