8-144407499-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407499
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407499
    reference: chr 8
allele count: 2
allele frequency: 1.775915040224476e-5
allele num: 112618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.377+17G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.671+17G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.377+17G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.377+17G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.377+17G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*112+17G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.377+17G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.377+17G>A
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31660
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11279
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4467
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

8-144407500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407500
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407500
    reference: chr 8
allele count: 2
allele frequency: 1.769942830846564e-5
allele num: 112998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.377+16G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.377+16G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.377+16G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.671+16G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.377+16G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*112+16G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.377+16G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.377+16G>A
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

8-144407501-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407501
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407501
    reference: chr 8
allele count: 12
allele frequency: 1.060407903573575e-4
allele num: 113164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*112+15G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.377+15G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.377+15G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.377+15G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.671+15G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.377+15G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.377+15G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.377+15G>A
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11665
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31822
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

8-144407502-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407502
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407502
    reference: chr 8
allele count: 2
allele frequency: 1.761555806087937e-5
allele num: 113536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.377+14C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.377+14C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*112+14C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.377+14C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.377+14C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.377+14C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.377+14C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.671+14C>T
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6970
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4022
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

8-144407504-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407504
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407504
    reference: chr 8
allele count: 3
allele frequency: 2.623707823896731e-5
allele num: 114342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.377+12G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.377+12G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*112+12G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.377+12G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.377+12G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.671+12G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.377+12G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.377+12G>A
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

8-144407505-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407505
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407505
    reference: chr 8
allele count: 10
allele frequency: 8.727374282173465e-5
allele num: 114582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.377+11G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.377+11G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.377+11G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.377+11G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.377+11G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.671+11G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*112+11G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.377+11G>A
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12549
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

8-144407506-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407506
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407506
    reference: chr 8
allele count: 2
allele frequency: 1.737136504186499e-5
allele num: 115132
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.671+10C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*112+10C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.377+10C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.377+10C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.377+10C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.377+10C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.377+10C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.377+10C>T
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/8-144407511-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407511
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407511
    reference: chr 8
allele count: 6
allele frequency: 5.143151037202126e-5
allele num: 116660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.377+5G>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.671+5G>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.377+5G>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.377+5G>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.377+5G>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.377+5G>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.377+5G>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*112+5G>T
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13433
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34253
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
hgvs: c.671+5G>T
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

8-144407511-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407511
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407511
    reference: chr 8
allele count: 4
allele frequency: 3.42876735813475e-5
allele num: 116660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.377+5G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.377+5G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.377+5G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.377+5G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.671+5G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.377+5G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*112+5G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.377+5G>A
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13433
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34253
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 9.75e1
  variant carriers: 4
hgvs: c.671+5G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

8-144407512-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407512
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407512
    reference: chr 8
allele count: 17
allele frequency: 1.454408569033075e-4
allele num: 116886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.377+4C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.377+4C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.377+4C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.671+4C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.377+4C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.377+4C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.377+4C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*112+4C>T
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13610
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3022
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.25e1
  variant carriers: 0
hgvs: c.671+4C>T
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ

8-144407514-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407514
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407514
    reference: chr 8
allele count: 1
allele frequency: 8.498776176230622e-6
allele num: 117664
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.377+2T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.377+2T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.377+2T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.377+2T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.377+2T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.671+2T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.377+2T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*112+2T>C
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
hgvs: c.671+2T>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

8-144407517-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407517
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407518
    reference: chr 8
allele count: 1
allele frequency: 8.456087537418188e-6
allele num: 118258
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.375dupC
  hgvsp: ENSP00000427998.1:p.Arg126GlnfsTer21
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.375dupC
  hgvsp: ENSP00000429169.1:p.Arg126GlnfsTer21
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.375dupC
  hgvsp: ENSP00000429177.1:p.Arg126GlnfsTer21
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.669dupC
  hgvsp: ENSP00000328835.3:p.Arg224GlnfsTer21
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.375dupC
  hgvsp: ENSP00000428451.2:p.Arg126GlnfsTer21
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.375dupC
  hgvsp: ENSP00000429181.1:p.Arg126GlnfsTer21
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.375dupC
  hgvsp: ENSP00000428369.1:p.Arg126GlnfsTer21
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*110dupC
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg224GlnfsTer21
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

8-144407518-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407518
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407518
    reference: chr 8
allele count: 1
allele frequency: 8.448086508405846e-6
allele num: 118370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.375C>A
  hgvsp: ENSP00000428451.2:p.Ser125Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.375C>A
  hgvsp: ENSP00000429181.1:p.Ser125Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*110C>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.375C>A
  hgvsp: ENSP00000429177.1:p.Ser125Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.375C>A
  hgvsp: ENSP00000429169.1:p.Ser125Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.669C>A
  hgvsp: ENSP00000328835.3:p.Ser223Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.375C>A
  hgvsp: ENSP00000428369.1:p.Ser125Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.375C>A
  hgvsp: ENSP00000427998.1:p.Ser125Arg
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser223Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-144407530-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407530
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407530
    reference: chr 8
allele count: 1
allele frequency: 8.366520531441385e-6
allele num: 119524
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.657T>G
  hgvsp: ENST00000329245.4:c.657T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.363T>G
  hgvsp: ENST00000519148.1:c.363T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.363T>G
  hgvsp: ENST00000519139.2:c.363T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.363T>G
  hgvsp: ENST00000519591.1:c.363T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.363T>G
  hgvsp: ENST00000523676.1:c.363T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.363T>G
  hgvsp: ENST00000522041.1:c.363T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.363T>G
  hgvsp: ENST00000521193.1:c.363T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*719T>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*98T>G
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val219Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/8-144407535-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407535
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407535
    reference: chr 8
allele count: 2
allele frequency: 1.668975415992122e-5
allele num: 119834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.358G>T
  hgvsp: ENSP00000427998.1:p.Val120Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.358G>T
  hgvsp: ENSP00000428369.1:p.Val120Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.652G>T
  hgvsp: ENSP00000328835.3:p.Val218Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.358G>T
  hgvsp: ENSP00000429169.1:p.Val120Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.358G>T
  hgvsp: ENSP00000429181.1:p.Val120Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*93G>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*714G>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.358G>T
  hgvsp: ENSP00000429177.1:p.Val120Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.358G>T
  hgvsp: ENSP00000428451.2:p.Val120Leu
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35237
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val218Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

8-144407535-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407535
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407535
    reference: chr 8
allele count: 1
allele frequency: 8.344877079960612e-6
allele num: 119834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.358G>C
  hgvsp: ENSP00000429169.1:p.Val120Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*714G>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.358G>C
  hgvsp: ENSP00000429177.1:p.Val120Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*93G>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.358G>C
  hgvsp: ENSP00000429181.1:p.Val120Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.358G>C
  hgvsp: ENSP00000428369.1:p.Val120Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.358G>C
  hgvsp: ENSP00000427998.1:p.Val120Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.358G>C
  hgvsp: ENSP00000428451.2:p.Val120Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.652G>C
  hgvsp: ENSP00000328835.3:p.Val218Leu
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37217
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val218Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

8-144407538-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407538
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407538
    reference: chr 8
allele count: 11
allele frequency: 9.171099364692935e-5
allele num: 119942
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*90G>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*711G>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.649G>C
  hgvsp: ENSP00000328835.3:p.Asp217His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.355G>C
  hgvsp: ENSP00000429177.1:p.Asp119His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.355G>C
  hgvsp: ENSP00000427998.1:p.Asp119His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.355G>C
  hgvsp: ENSP00000428451.2:p.Asp119His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.355G>C
  hgvsp: ENSP00000429169.1:p.Asp119His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.355G>C
  hgvsp: ENSP00000429181.1:p.Asp119His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.355G>C
  hgvsp: ENSP00000428369.1:p.Asp119His
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15112
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp217His
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

8-144407546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407546
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407546
    reference: chr 8
allele count: 3
allele frequency: 2.494138773881379e-5
allele num: 120282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.347C>T
  hgvsp: ENSP00000429169.1:p.Thr116Met
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.641C>T
  hgvsp: ENSP00000328835.3:p.Thr214Met
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.347C>T
  hgvsp: ENSP00000429177.1:p.Thr116Met
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.347C>T
  hgvsp: ENSP00000429181.1:p.Thr116Met
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.347C>T
  hgvsp: ENSP00000428451.2:p.Thr116Met
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.347C>T
  hgvsp: ENSP00000428369.1:p.Thr116Met
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.347C>T
  hgvsp: ENSP00000427998.1:p.Thr116Met
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*703C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*82C>T
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37692
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr214Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

8-144407564-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407564
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407564
    reference: chr 8
allele count: 4
allele frequency: 3.314605810503986e-5
allele num: 120678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.329T>A
  hgvsp: ENSP00000429169.1:p.Met110Lys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.329T>A
  hgvsp: ENSP00000429177.1:p.Met110Lys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.329T>A
  hgvsp: ENSP00000427998.1:p.Met110Lys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.329T>A
  hgvsp: ENSP00000429181.1:p.Met110Lys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.329T>A
  hgvsp: ENSP00000428451.2:p.Met110Lys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*64T>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.329T>A
  hgvsp: ENSP00000428369.1:p.Met110Lys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.623T>A
  hgvsp: ENSP00000328835.3:p.Met208Lys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*685T>A
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3855
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met208Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

8-144407571-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407571
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407571
    reference: chr 8
allele count: 13
allele frequency: 1.076337141910912e-4
allele num: 120780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.322A>G
  hgvsp: ENSP00000429177.1:p.Met108Val
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.322A>G
  hgvsp: ENSP00000428369.1:p.Met108Val
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.322A>G
  hgvsp: ENSP00000428451.2:p.Met108Val
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*57A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*678A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.322A>G
  hgvsp: ENSP00000429181.1:p.Met108Val
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.616A>G
  hgvsp: ENSP00000328835.3:p.Met206Val
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.322A>G
  hgvsp: ENSP00000427998.1:p.Met108Val
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.322A>G
  hgvsp: ENSP00000429169.1:p.Met108Val
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35036
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37951
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met206Val
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

8-144407583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407583
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407583
    reference: chr 8
allele count: 1
allele frequency: 8.273077750384698e-6
allele num: 120874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.310G>A
  hgvsp: ENSP00000429169.1:p.Asp104Asn
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.310G>A
  hgvsp: ENSP00000429177.1:p.Asp104Asn
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.310G>A
  hgvsp: ENSP00000428369.1:p.Asp104Asn
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*666G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.310G>A
  hgvsp: ENSP00000427998.1:p.Asp104Asn
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.604G>A
  hgvsp: ENSP00000328835.3:p.Asp202Asn
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.310G>A
  hgvsp: ENSP00000428451.2:p.Asp104Asn
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.310G>A
  hgvsp: ENSP00000429181.1:p.Asp104Asn
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*45G>A
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8434
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp202Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

8-144407584-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407584
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407584
    reference: chr 8
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.309C>T
  hgvsp: ENST00000521193.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.309C>T
  hgvsp: ENST00000523676.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*665C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.603C>T
  hgvsp: ENST00000329245.4:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.309C>T
  hgvsp: ENST00000522041.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.309C>T
  hgvsp: ENST00000519139.2:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.309C>T
  hgvsp: ENST00000519148.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.309C>T
  hgvsp: ENST00000519591.1:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*44C>T
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8433
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly201Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

8-144407586-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407586
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407586
    reference: chr 8
allele count: 1
allele frequency: 8.271161767381846e-6
allele num: 120902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*42G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.307G>A
  hgvsp: ENSP00000429169.1:p.Gly103Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.307G>A
  hgvsp: ENSP00000429181.1:p.Gly103Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.307G>A
  hgvsp: ENSP00000428451.2:p.Gly103Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*663G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.307G>A
  hgvsp: ENSP00000429177.1:p.Gly103Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.307G>A
  hgvsp: ENSP00000427998.1:p.Gly103Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.601G>A
  hgvsp: ENSP00000328835.3:p.Gly201Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.307G>A
  hgvsp: ENSP00000428369.1:p.Gly103Ser
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3861
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly201Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

8-144407588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407588
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407588
    reference: chr 8
allele count: 1
allele frequency: 8.270614506657845e-6
allele num: 120910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.305G>A
  hgvsp: ENSP00000429181.1:p.Arg102His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.305G>A
  hgvsp: ENSP00000429177.1:p.Arg102His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*40G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.305G>A
  hgvsp: ENSP00000427998.1:p.Arg102His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.599G>A
  hgvsp: ENSP00000328835.3:p.Arg200His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.305G>A
  hgvsp: ENSP00000429169.1:p.Arg102His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.305G>A
  hgvsp: ENSP00000428451.2:p.Arg102His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.305G>A
  hgvsp: ENSP00000428369.1:p.Arg102His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*661G>A
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg200His
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: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

8-144407589-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407589
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407589
    reference: chr 8
allele count: 32
allele frequency: 2.646334000430029e-4
allele num: 120922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.304C>T
  hgvsp: ENSP00000429181.1:p.Arg102Cys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.304C>T
  hgvsp: ENSP00000428369.1:p.Arg102Cys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.304C>T
  hgvsp: ENSP00000428451.2:p.Arg102Cys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.598C>T
  hgvsp: ENSP00000328835.3:p.Arg200Cys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.304C>T
  hgvsp: ENSP00000429177.1:p.Arg102Cys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.304C>T
  hgvsp: ENSP00000427998.1:p.Arg102Cys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*39C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.304C>T
  hgvsp: ENSP00000429169.1:p.Arg102Cys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*660C>T
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34846
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg200Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

8-144407594-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407594
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407594
    reference: chr 8
allele count: 2
allele frequency: 1.653466492501529e-5
allele num: 120958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.299G>A
  hgvsp: ENSP00000429177.1:p.Arg100His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*34G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.299G>A
  hgvsp: ENSP00000427998.1:p.Arg100His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.299G>A
  hgvsp: ENSP00000429181.1:p.Arg100His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.299G>A
  hgvsp: ENSP00000428369.1:p.Arg100His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.299G>A
  hgvsp: ENSP00000429169.1:p.Arg100His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.299G>A
  hgvsp: ENSP00000428451.2:p.Arg100His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.593G>A
  hgvsp: ENSP00000328835.3:p.Arg198His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*655G>A
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg198His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

8-144407595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407595
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407595
    reference: chr 8
allele count: 53
allele frequency: 4.38139642544186e-4
allele num: 120966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.298C>T
  hgvsp: ENSP00000428369.1:p.Arg100Cys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.592C>T
  hgvsp: ENSP00000328835.3:p.Arg198Cys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.298C>T
  hgvsp: ENSP00000428451.2:p.Arg100Cys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.298C>T
  hgvsp: ENSP00000429177.1:p.Arg100Cys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*328C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*654C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*33C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.298C>T
  hgvsp: ENSP00000429181.1:p.Arg100Cys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.298C>T
  hgvsp: ENSP00000427998.1:p.Arg100Cys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.298C>T
  hgvsp: ENSP00000429169.1:p.Arg100Cys
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 34816
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg198Cys
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

8-144407599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407599
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407599
    reference: chr 8
allele count: 1
allele frequency: 8.264189613566494e-6
allele num: 121004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.294G>A
  hgvsp: ENST00000519139.2:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*29G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.588G>A
  hgvsp: ENST00000329245.4:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.294G>A
  hgvsp: ENST00000522041.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*324G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.294G>A
  hgvsp: ENST00000519148.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.294G>A
  hgvsp: ENST00000519591.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.294G>A
  hgvsp: ENST00000523676.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*650G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.294G>A
  hgvsp: ENST00000521193.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu196Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

8-144407607-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407607
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407607
    reference: chr 8
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*316C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.286C>T
  hgvsp: ENSP00000427998.1:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.286C>T
  hgvsp: ENSP00000429181.1:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.286C>T
  hgvsp: ENSP00000429177.1:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*642C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*21C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.580C>T
  hgvsp: ENSP00000328835.3:p.Pro194Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.286C>T
  hgvsp: ENSP00000428451.2:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.286C>T
  hgvsp: ENSP00000429169.1:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.286C>T
  hgvsp: ENSP00000428369.1:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro194Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

8-144407608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407608
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407608
    reference: chr 8
allele count: 7
allele frequency: 5.783021050196623e-5
allele num: 121044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.285G>A
  hgvsp: ENST00000523676.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.579G>A
  hgvsp: ENST00000329245.4:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.285G>A
  hgvsp: ENST00000519591.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*315G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.285G>A
  hgvsp: ENST00000519148.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.285G>A
  hgvsp: ENST00000522041.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.285G>A
  hgvsp: ENST00000521193.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*641G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.285G>A
  hgvsp: ENST00000519139.2:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*20G>A
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro193Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

8-144407609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407609
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407609
    reference: chr 8
allele count: 3
allele frequency: 2.478150968957029e-5
allele num: 121058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.284C>T
  hgvsp: ENSP00000428369.1:p.Pro95Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*19C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*314C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.578C>T
  hgvsp: ENSP00000328835.3:p.Pro193Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.284C>T
  hgvsp: ENSP00000429169.1:p.Pro95Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.284C>T
  hgvsp: ENSP00000429177.1:p.Pro95Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.284C>T
  hgvsp: ENSP00000428451.2:p.Pro95Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.284C>T
  hgvsp: ENSP00000427998.1:p.Pro95Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*640C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.284C>T
  hgvsp: ENSP00000429181.1:p.Pro95Leu
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro193Leu
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

8-144407612-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407612
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407612
    reference: chr 8
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*637A>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.575A>C
  hgvsp: ENSP00000328835.3:p.Glu192Ala
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.281A>C
  hgvsp: ENSP00000429181.1:p.Glu94Ala
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.281A>C
  hgvsp: ENSP00000429177.1:p.Glu94Ala
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*16A>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.281A>C
  hgvsp: ENSP00000427998.1:p.Glu94Ala
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.281A>C
  hgvsp: ENSP00000429169.1:p.Glu94Ala
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.281A>C
  hgvsp: ENSP00000428451.2:p.Glu94Ala
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.281A>C
  hgvsp: ENSP00000428369.1:p.Glu94Ala
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*311A>C
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3873
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu192Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-144407615-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407615
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407615
    reference: chr 8
allele count: 3
allele frequency: 2.477291494632535e-5
allele num: 121100
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*13T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*634T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.572T>C
  hgvsp: ENSP00000328835.3:p.Ile191Thr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.278T>C
  hgvsp: ENSP00000429169.1:p.Ile93Thr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*308T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.278T>C
  hgvsp: ENSP00000428451.2:p.Ile93Thr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.278T>C
  hgvsp: ENSP00000429177.1:p.Ile93Thr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.278T>C
  hgvsp: ENSP00000429181.1:p.Ile93Thr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.278T>C
  hgvsp: ENSP00000428369.1:p.Ile93Thr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.278T>C
  hgvsp: ENSP00000427998.1:p.Ile93Thr
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38185
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile191Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

8-144407619-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407619
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407619
    reference: chr 8
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*9A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*304A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.274A>G
  hgvsp: ENSP00000428369.1:p.Lys92Glu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.274A>G
  hgvsp: ENSP00000429169.1:p.Lys92Glu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.274A>G
  hgvsp: ENSP00000429181.1:p.Lys92Glu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.568A>G
  hgvsp: ENSP00000328835.3:p.Lys190Glu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.274A>G
  hgvsp: ENSP00000429177.1:p.Lys92Glu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.274A>G
  hgvsp: ENSP00000427998.1:p.Lys92Glu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.274A>G
  hgvsp: ENSP00000428451.2:p.Lys92Glu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*630A>G
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3874
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys190Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

8-144407620-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407620
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407620
    reference: chr 8
allele count: 2
allele frequency: 1.651009592365732e-5
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.273C>T
  hgvsp: ENST00000519139.2:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*629C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.273C>T
  hgvsp: ENST00000522041.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.273C>T
  hgvsp: ENST00000521193.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.567C>T
  hgvsp: ENST00000329245.4:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.273C>T
  hgvsp: ENST00000523676.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.273C>T
  hgvsp: ENST00000519148.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.*8C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.273C>T
  hgvsp: ENST00000519591.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*303C>T
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe189Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-144407632-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407632
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407632
    reference: chr 8
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*291A>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.261A>C
  hgvsp: ENSP00000428369.1:p.Lys87Asn
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.261A>C
  hgvsp: ENSP00000429181.1:p.Lys87Asn
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.500A>C
  hgvsp: ENSP00000428727.1:p.Lys167Thr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.261A>C
  hgvsp: ENSP00000427998.1:p.Lys87Asn
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.261A>C
  hgvsp: ENSP00000428451.2:p.Lys87Asn
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.555A>C
  hgvsp: ENSP00000328835.3:p.Lys185Asn
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*617A>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.261A>C
  hgvsp: ENSP00000429177.1:p.Lys87Asn
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.261A>C
  hgvsp: ENSP00000429169.1:p.Lys87Asn
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys185Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

8-144407638-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407638
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407638
    reference: chr 8
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.549A>C
  hgvsp: ENSP00000328835.3:p.Gln183His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.255A>C
  hgvsp: ENSP00000429169.1:p.Gln85His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.255A>C
  hgvsp: ENSP00000427998.1:p.Gln85His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.255A>C
  hgvsp: ENSP00000428451.2:p.Gln85His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.255A>C
  hgvsp: ENSP00000429181.1:p.Gln85His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*611A>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.255A>C
  hgvsp: ENSP00000428369.1:p.Gln85His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.255A>C
  hgvsp: ENSP00000429177.1:p.Gln85His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*285A>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.494A>C
  hgvsp: ENSP00000428727.1:p.Lys165Thr
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln183His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

8-144407639-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407639
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407639
    reference: chr 8
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*284A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.548A>G
  hgvsp: ENSP00000328835.3:p.Gln183Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.254A>G
  hgvsp: ENSP00000428369.1:p.Gln85Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.254A>G
  hgvsp: ENSP00000429169.1:p.Gln85Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.254A>G
  hgvsp: ENSP00000429181.1:p.Gln85Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.254A>G
  hgvsp: ENSP00000427998.1:p.Gln85Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.254A>G
  hgvsp: ENSP00000429177.1:p.Gln85Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*610A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.254A>G
  hgvsp: ENSP00000428451.2:p.Gln85Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.493A>G
  hgvsp: ENSP00000428727.1:p.Lys165Glu
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln183Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

8-144407640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407640
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407640
    reference: chr 8
allele count: 2
allele frequency: 1.650246711883427e-5
allele num: 121194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.253C>T
  hgvsp: ENSP00000429177.1:p.Gln85Ter
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*283C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.547C>T
  hgvsp: ENSP00000328835.3:p.Gln183Ter
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.253C>T
  hgvsp: ENSP00000428369.1:p.Gln85Ter
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.253C>T
  hgvsp: ENSP00000429169.1:p.Gln85Ter
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.253C>T
  hgvsp: ENSP00000428451.2:p.Gln85Ter
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.253C>T
  hgvsp: ENSP00000429181.1:p.Gln85Ter
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.492C>T
  hgvsp: ENST00000518951.2:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.253C>T
  hgvsp: ENSP00000427998.1:p.Gln85Ter
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*609C>T
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln183Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

8-144407641-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407641
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407641
    reference: chr 8
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.252C>T
  hgvsp: ENST00000523676.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.491C>T
  hgvsp: ENSP00000428727.1:p.Thr164Ile
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*282C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.252C>T
  hgvsp: ENST00000519139.2:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.252C>T
  hgvsp: ENST00000521193.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.252C>T
  hgvsp: ENST00000519591.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.546C>T
  hgvsp: ENST00000329245.4:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*608C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.252C>T
  hgvsp: ENST00000522041.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.252C>T
  hgvsp: ENST00000519148.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr164Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-144407648-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407648
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407648
    reference: chr 8
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.245A>C
  hgvsp: ENSP00000428369.1:p.Asp82Ala
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*601A>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.539A>C
  hgvsp: ENSP00000328835.3:p.Asp180Ala
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*275A>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.245A>C
  hgvsp: ENSP00000427998.1:p.Asp82Ala
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.245A>C
  hgvsp: ENSP00000429177.1:p.Asp82Ala
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.245A>C
  hgvsp: ENSP00000428451.2:p.Asp82Ala
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.245A>C
  hgvsp: ENSP00000429169.1:p.Asp82Ala
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484A>C
  hgvsp: ENSP00000428727.1:p.Met162Leu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.245A>C
  hgvsp: ENSP00000429181.1:p.Asp82Ala
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp180Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

8-144407650-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407650
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407651
    reference: chr 8
allele count: 3
allele frequency: 2.475329218786098e-5
allele num: 121196
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.242dupT
  hgvsp: ENSP00000429169.1:p.Leu81PhefsTer14
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*272dupT
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.242dupT
  hgvsp: ENSP00000427998.1:p.Leu81PhefsTer14
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.242dupT
  hgvsp: ENSP00000429181.1:p.Leu81PhefsTer14
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-3dupT
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.242dupT
  hgvsp: ENSP00000428369.1:p.Leu81PhefsTer14
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.242dupT
  hgvsp: ENSP00000429177.1:p.Leu81PhefsTer14
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*598dupT
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.536dupT
  hgvsp: ENSP00000328835.3:p.Leu179PhefsTer14
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.242dupT
  hgvsp: ENSP00000428451.2:p.Leu81PhefsTer14
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 16061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu179PhefsTer14
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

8-144407651-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407651
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407651
    reference: chr 8
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.242T>C
  hgvsp: ENSP00000428369.1:p.Leu81Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.242T>C
  hgvsp: ENSP00000429177.1:p.Leu81Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.242T>C
  hgvsp: ENSP00000428451.2:p.Leu81Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*598T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.242T>C
  hgvsp: ENSP00000429169.1:p.Leu81Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.536T>C
  hgvsp: ENSP00000328835.3:p.Leu179Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.242T>C
  hgvsp: ENSP00000427998.1:p.Leu81Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.242T>C
  hgvsp: ENSP00000429181.1:p.Leu81Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*272T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-3T>C
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34868
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu179Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/8-144407652-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407652
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407652
    reference: chr 8
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.241T>G
  hgvsp: ENSP00000429181.1:p.Leu81Val
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.241T>G
  hgvsp: ENSP00000428369.1:p.Leu81Val
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.535T>G
  hgvsp: ENSP00000328835.3:p.Leu179Val
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.241T>G
  hgvsp: ENSP00000429177.1:p.Leu81Val
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-4T>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.241T>G
  hgvsp: ENSP00000427998.1:p.Leu81Val
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*597T>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.241T>G
  hgvsp: ENSP00000428451.2:p.Leu81Val
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*271T>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.241T>G
  hgvsp: ENSP00000429169.1:p.Leu81Val
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu179Val
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

8-144407654-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407654
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407654
    reference: chr 8
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.239T>C
  hgvsp: ENSP00000428369.1:p.Ile80Thr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.239T>C
  hgvsp: ENSP00000427998.1:p.Ile80Thr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.239T>C
  hgvsp: ENSP00000429181.1:p.Ile80Thr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-6T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.533T>C
  hgvsp: ENSP00000328835.3:p.Ile178Thr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.239T>C
  hgvsp: ENSP00000429169.1:p.Ile80Thr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*595T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*269T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.239T>C
  hgvsp: ENSP00000428451.2:p.Ile80Thr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.239T>C
  hgvsp: ENSP00000429177.1:p.Ile80Thr
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile178Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

8-144407657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407657
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407657
    reference: chr 8
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.236G>A
  hgvsp: ENSP00000428451.2:p.Cys79Tyr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.236G>A
  hgvsp: ENSP00000429169.1:p.Cys79Tyr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.530G>A
  hgvsp: ENSP00000328835.3:p.Cys177Tyr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*266G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.236G>A
  hgvsp: ENSP00000429177.1:p.Cys79Tyr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.236G>A
  hgvsp: ENSP00000428369.1:p.Cys79Tyr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.236G>A
  hgvsp: ENSP00000427998.1:p.Cys79Tyr
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*592G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-9G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.236G>A
  hgvsp: ENSP00000429181.1:p.Cys79Tyr
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys177Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

8-144407658-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407658
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407658
    reference: chr 8
allele count: 2
allele frequency: 1.650273945474949e-5
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.235T>C
  hgvsp: ENSP00000427998.1:p.Cys79Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.235T>C
  hgvsp: ENSP00000429169.1:p.Cys79Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.529T>C
  hgvsp: ENSP00000328835.3:p.Cys177Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.235T>C
  hgvsp: ENSP00000428369.1:p.Cys79Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*265T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.235T>C
  hgvsp: ENSP00000429181.1:p.Cys79Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.235T>C
  hgvsp: ENSP00000429177.1:p.Cys79Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*591T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.235T>C
  hgvsp: ENSP00000428451.2:p.Cys79Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-10T>C
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys177Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

8-144407659-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407659
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407659
    reference: chr 8
allele count: 4
allele frequency: 3.300929211573058e-5
allele num: 121178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*264C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.234C>T
  hgvsp: ENST00000523676.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.234C>T
  hgvsp: ENST00000519591.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*590C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.234C>T
  hgvsp: ENST00000521193.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.234C>T
  hgvsp: ENST00000522041.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.528C>T
  hgvsp: ENST00000329245.4:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-11C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.234C>T
  hgvsp: ENST00000519139.2:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.234C>T
  hgvsp: ENST00000519148.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr176Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

8-144407663-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407663
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407663
    reference: chr 8
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*586G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.230G>A
  hgvsp: ENSP00000428369.1:p.Gly77Asp
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.230G>A
  hgvsp: ENSP00000427998.1:p.Gly77Asp
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.230G>A
  hgvsp: ENSP00000429169.1:p.Gly77Asp
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.524G>A
  hgvsp: ENSP00000328835.3:p.Gly175Asp
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-15G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.230G>A
  hgvsp: ENSP00000429181.1:p.Gly77Asp
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.230G>A
  hgvsp: ENSP00000429177.1:p.Gly77Asp
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.230G>A
  hgvsp: ENSP00000428451.2:p.Gly77Asp
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*260G>A
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly175Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

8-144407664-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407664
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407664
    reference: chr 8
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.229G>A
  hgvsp: ENSP00000428451.2:p.Gly77Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.229G>A
  hgvsp: ENSP00000429181.1:p.Gly77Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-16G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.229G>A
  hgvsp: ENSP00000427998.1:p.Gly77Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.229G>A
  hgvsp: ENSP00000429169.1:p.Gly77Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.523G>A
  hgvsp: ENSP00000328835.3:p.Gly175Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*585G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.229G>A
  hgvsp: ENSP00000428369.1:p.Gly77Ser
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*259G>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.229G>A
  hgvsp: ENSP00000429177.1:p.Gly77Ser
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6722
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly175Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

8-144407665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407665
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407665
    reference: chr 8
allele count: 5
allele frequency: 4.126502046745016e-5
allele num: 121168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.228C>T
  hgvsp: ENST00000519148.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.228C>T
  hgvsp: ENST00000519139.2:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-17C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.228C>T
  hgvsp: ENST00000523676.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.228C>T
  hgvsp: ENST00000522041.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.522C>T
  hgvsp: ENST00000329245.4:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*584C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*258C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.228C>T
  hgvsp: ENST00000521193.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.228C>T
  hgvsp: ENST00000519591.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe174Phe
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: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

8-144407668-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407668
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407668
    reference: chr 8
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.225G>C
  hgvsp: ENSP00000428451.2:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*581G>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.225G>C
  hgvsp: ENSP00000429181.1:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-20G>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.225G>C
  hgvsp: ENSP00000429169.1:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.519G>C
  hgvsp: ENSP00000328835.3:p.Glu173Asp
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.225G>C
  hgvsp: ENSP00000428369.1:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*255G>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.225G>C
  hgvsp: ENSP00000427998.1:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.225G>C
  hgvsp: ENSP00000429177.1:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16066
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu173Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

8-144407673-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407673
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407673
    reference: chr 8
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.220C>A
  hgvsp: ENSP00000428369.1:p.Gln74Lys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.514C>A
  hgvsp: ENSP00000328835.3:p.Gln172Lys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*576C>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.220C>A
  hgvsp: ENSP00000429181.1:p.Gln74Lys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.220C>A
  hgvsp: ENSP00000428451.2:p.Gln74Lys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.220C>A
  hgvsp: ENSP00000429169.1:p.Gln74Lys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*250C>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.220C>A
  hgvsp: ENSP00000427998.1:p.Gln74Lys
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-25C>A
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.220C>A
  hgvsp: ENSP00000429177.1:p.Gln74Lys
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln172Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-144407674-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407674
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407674
    reference: chr 8
allele count: 2
allele frequency: 1.651473114017704e-5
allele num: 121104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.219G>T
  hgvsp: ENSP00000428369.1:p.Gln73His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.513G>T
  hgvsp: ENSP00000328835.3:p.Gln171His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.219G>T
  hgvsp: ENSP00000428451.2:p.Gln73His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*249G>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.219G>T
  hgvsp: ENSP00000429169.1:p.Gln73His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*575G>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-26G>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.219G>T
  hgvsp: ENSP00000429181.1:p.Gln73His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.219G>T
  hgvsp: ENSP00000427998.1:p.Gln73His
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.219G>T
  hgvsp: ENSP00000429177.1:p.Gln73His
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln171His
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

8-144407675-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407675
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407675
    reference: chr 8
allele count: 1381
allele frequency: 1.140304521584041e-2
allele num: 121108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.218A>G
  hgvsp: ENSP00000428451.2:p.Gln73Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.218A>G
  hgvsp: ENSP00000428369.1:p.Gln73Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.512A>G
  hgvsp: ENSP00000328835.3:p.Gln171Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.218A>G
  hgvsp: ENSP00000429169.1:p.Gln73Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*248A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.218A>G
  hgvsp: ENSP00000429177.1:p.Gln73Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-27A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.218A>G
  hgvsp: ENSP00000429181.1:p.Gln73Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.218A>G
  hgvsp: ENSP00000427998.1:p.Gln73Arg
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*574A>G
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 860
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15705
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 33993
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln171Arg
num of homozygotes: 11
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

8-144407684-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407684
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407684
    reference: chr 8
allele count: 18
allele frequency: 1.488119843251376e-4
allele num: 120958
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*239A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*565A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.209A>G
  hgvsp: ENSP00000429177.1:p.Glu70Gly
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.209A>G
  hgvsp: ENSP00000428369.1:p.Glu70Gly
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.209A>G
  hgvsp: ENSP00000429169.1:p.Glu70Gly
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.503A>G
  hgvsp: ENSP00000328835.3:p.Glu168Gly
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.209A>G
  hgvsp: ENSP00000427998.1:p.Glu70Gly
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-36A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.209A>G
  hgvsp: ENSP00000429181.1:p.Glu70Gly
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.209A>G
  hgvsp: ENSP00000428451.2:p.Glu70Gly
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 9.75e1
  variant carriers: 18
hgvs: p.Glu168Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

8-144407689-CTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407689
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407686
    reference: chr 8
allele count: 1
allele frequency: 8.273214640280627e-6
allele num: 120872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.201_203delAGA
  hgvsp: ENSP00000429169.1:p.Glu68del
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-44_484-42delAGA
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.201_203delAGA
  hgvsp: ENSP00000427998.1:p.Glu68del
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.201_203delAGA
  hgvsp: ENSP00000428369.1:p.Glu68del
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430209
  ensembl transcript: ENST00000518007
  gene symbol: TOP1MT
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.495_497delAGA
  hgvsp: ENSP00000328835.3:p.Glu166del
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.201_203delAGA
  hgvsp: ENSP00000429181.1:p.Glu68del
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.201_203delAGA
  hgvsp: ENSP00000429177.1:p.Glu68del
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*557_*559delAGA
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*231_*233delAGA
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.201_203delAGA
  hgvsp: ENSP00000428451.2:p.Glu68del
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu166del
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: CTCT
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

8-144407690-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407690
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407690
    reference: chr 8
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.203A>T
  hgvsp: ENSP00000428369.1:p.Glu68Val
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.203A>T
  hgvsp: ENSP00000427998.1:p.Glu68Val
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.203A>T
  hgvsp: ENSP00000429169.1:p.Glu68Val
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*233A>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*559A>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.203A>T
  hgvsp: ENSP00000429181.1:p.Glu68Val
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.497A>T
  hgvsp: ENSP00000328835.3:p.Glu166Val
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.203A>T
  hgvsp: ENSP00000429177.1:p.Glu68Val
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-42A>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.203A>T
  hgvsp: ENSP00000428451.2:p.Glu68Val
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu166Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-144407697-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407697
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407697
    reference: chr 8
allele count: 3
allele frequency: 2.48752093663455e-5
allele num: 120602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.196A>G
  hgvsp: ENSP00000429181.1:p.Lys66Glu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.196A>G
  hgvsp: ENSP00000427998.1:p.Lys66Glu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.196A>G
  hgvsp: ENSP00000429177.1:p.Lys66Glu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*226A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.196A>G
  hgvsp: ENSP00000428451.2:p.Lys66Glu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.490A>G
  hgvsp: ENSP00000328835.3:p.Lys164Glu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.196A>G
  hgvsp: ENSP00000428369.1:p.Lys66Glu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.196A>G
  hgvsp: ENSP00000429169.1:p.Lys66Glu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430209
  ensembl transcript: ENST00000518007
  gene symbol: TOP1MT
  hgvsc: ENST00000518007.1:c.397A>G
  hgvsp: ENSP00000430209.1:p.Lys133Glu
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*552A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-49A>G
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys164Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

8-144407708-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407708
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407708
    reference: chr 8
allele count: 1
allele frequency: 8.323345318950592e-6
allele num: 120144
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*546-5C>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.190-5C>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.190-5C>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-60C>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.190-5C>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430209
  ensembl transcript: ENST00000518007
  gene symbol: TOP1MT
  hgvsc: ENST00000518007.1:c.391-5C>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.190-5C>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.484-5C>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*220-5C>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.190-5C>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.190-5C>G
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.484-5C>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-144407711-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407711
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407711
    reference: chr 8
allele count: 2
allele frequency: 1.666638889351844e-5
allele num: 120002
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*220-8T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430209
  ensembl transcript: ENST00000518007
  gene symbol: TOP1MT
  hgvsc: ENST00000518007.1:c.391-8T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.190-8T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*546-8T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.190-8T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-63T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.484-8T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.190-8T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.190-8T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.190-8T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.190-8T>C
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.484-8T>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

8-144407714-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407714
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407714
    reference: chr 8
allele count: 3
allele frequency: 2.502168546073264e-5
allele num: 119896
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.190-11T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.190-11T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430209
  ensembl transcript: ENST00000518007
  gene symbol: TOP1MT
  hgvsc: ENST00000518007.1:c.391-11T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.484-11T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*220-11T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.190-11T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.190-11T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-66T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.190-11T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.190-11T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*546-11T>C
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-144407720-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407720
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407720
    reference: chr 8
allele count: 2
allele frequency: 1.671821449469197e-5
allele num: 119630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430209
  ensembl transcript: ENST00000518007
  gene symbol: TOP1MT
  hgvsc: ENST00000518007.1:c.391-17C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.190-17C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.190-17C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.190-17C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.484-17C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*546-17C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.190-17C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.190-17C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-72C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.190-17C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*220-17C>T
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

8-144407722-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407722
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407722
    reference: chr 8
allele count: 1
allele frequency: 8.366100560528738e-6
allele num: 119530
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.190-19G>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*546-19G>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.190-19G>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.484-19G>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.190-19G>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.190-19G>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.190-19G>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-74G>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.190-19G>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430209
  ensembl transcript: ENST00000518007
  gene symbol: TOP1MT
  hgvsc: ENST00000518007.1:c.391-19G>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*220-19G>C
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 31681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

8-144407726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407726
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407726
    reference: chr 8
allele count: 1
allele frequency: 8.377735330585436e-6
allele num: 119364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430209
  ensembl transcript: ENST00000518007
  gene symbol: TOP1MT
  hgvsc: ENST00000518007.1:c.391-23C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.190-23C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.190-23C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*546-23C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.190-23C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.484-23C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.190-23C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*220-23C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.190-23C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-78C>T
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.190-23C>T
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

8-144407728-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407728
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407728
    reference: chr 8
allele count: 1
allele frequency: 8.381808123648433e-6
allele num: 119306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.190-25T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.190-25T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.484-25T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.190-25T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*220-25T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*546-25T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.190-25T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430209
  ensembl transcript: ENST00000518007
  gene symbol: TOP1MT
  hgvsc: ENST00000518007.1:c.391-25T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.190-25T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.190-25T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-80T>C
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

8-144407730-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407730
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407730
    reference: chr 8
allele count: 1
allele frequency: 8.390387971539804e-6
allele num: 119184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.190-27T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.190-27T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.190-27T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430209
  ensembl transcript: ENST00000518007
  gene symbol: TOP1MT
  hgvsc: ENST00000518007.1:c.391-27T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.484-27T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-82T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.190-27T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.190-27T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*220-27T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*546-27T>C
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.190-27T>C
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3815
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

8-144407738-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407738
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407738
    reference: chr 8
allele count: 1
allele frequency: 8.417225009258947e-6
allele num: 118804
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.190-35A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.190-35A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.190-35A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-90A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.190-35A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430209
  ensembl transcript: ENST00000518007
  gene symbol: TOP1MT
  hgvsc: ENST00000518007.1:c.391-35A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*546-35A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.190-35A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.190-35A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.484-35A>G
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*220-35A>G
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29771
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

8-144407745-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144407745
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 144407743
    reference: chr 8
allele count: 1
allele frequency: 8.452370890034655e-6
allele num: 118310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430209
  ensembl transcript: ENST00000518007
  gene symbol: TOP1MT
  hgvsc: ENST00000518007.1:c.391-44_391-43delCT
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000427998
  ensembl transcript: ENST00000522041
  gene symbol: TOP1MT
  hgvsc: ENST00000522041.1:c.190-44_190-43delCT
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428369
  ensembl transcript: ENST00000521193
  gene symbol: TOP1MT
  hgvsc: ENST00000521193.1:c.190-44_190-43delCT
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429177
  ensembl transcript: ENST00000519591
  gene symbol: TOP1MT
  hgvsc: ENST00000519591.1:c.190-44_190-43delCT
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429181
  ensembl transcript: ENST00000523676
  gene symbol: TOP1MT
  hgvsc: ENST00000523676.1:c.190-44_190-43delCT
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430679
  ensembl transcript: ENST00000523417
  gene symbol: TOP1MT
  hgvsc: ENST00000523417.1:c.*220-44_*220-43delCT
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428727
  ensembl transcript: ENST00000518951
  gene symbol: TOP1MT
  hgvsc: ENST00000518951.2:c.484-99_484-98delCT
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000429169
  ensembl transcript: ENST00000519148
  gene symbol: TOP1MT
  hgvsc: ENST00000519148.1:c.190-44_190-43delCT
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000328835
  ensembl transcript: ENST00000329245
  gene symbol: TOP1MT
  hgvsc: ENST00000329245.4:c.484-44_484-43delCT
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000428451
  ensembl transcript: ENST00000519139
  gene symbol: TOP1MT
  hgvsc: ENST00000519139.2:c.190-44_190-43delCT
  variant of: http://identifiers.org/hgnc/29787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184428
  ensembl protein: ENSP00000430139
  ensembl transcript: ENST00000522121
  gene symbol: TOP1MT
  hgvsc: ENST00000522121.1:c.*546-44_*546-43delCT
  variant of: http://identifiers.org/hgnc/29787
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: AAG

GenotypeQuality
all individuals: 775
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30327
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2087
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2916
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11020
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.200409652435512e-5
allele num: 62492
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.362475e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.843e1

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -2.78e0

FS
type: SiteQuality
SIO_000300: 7.597e0

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.727e0

GenotypeQuality
all individuals: 269
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6843
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2635
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2970
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4363
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11036
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.192032686414709e-5
allele num: 62656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14492
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

DP
type: SiteQuality
SIO_000300: 1.368512e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.226e1

GenotypeQuality
all individuals: 249
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1888
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3004
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6851
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30246
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1554
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.564801530368245e-5
allele num: 62730
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.145022531749283e-4
allele num: 9764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5886
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.4e1

FS
type: SiteQuality
SIO_000300: 4.295e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

DP
type: SiteQuality
SIO_000300: 1.375449e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 786
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31222
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1736
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.180459258316901e-5
allele num: 62884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

FS
type: SiteQuality
SIO_000300: 1.362e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.243e1

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 1.386335e6

GenotypeQuality
all individuals: 32823
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2771
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1791
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3620
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14918
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.050640634533252e-4
allele num: 9834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5956
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

FS
type: SiteQuality
SIO_000300: 1.926e0

MQRankSum
type: SiteQuality
SIO_000300: -1.003e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.73e-1

DP
type: SiteQuality
SIO_000300: 1.402843e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.548e1

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 447
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2796
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2044
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32665
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 9.75e1
variant carriers: 10

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578631642092634e-5
allele num: 63346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9846
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.064081343107118e-3
allele num: 8458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5982
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

DP
type: SiteQuality
SIO_000300: 1.411114e6

FS
type: SiteQuality
SIO_000300: 2.199e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

QD
type: SiteQuality
SIO_000300: 1.167e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63624
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.01276078590237e-4
allele num: 9874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6010
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.196172248803828e-3
allele num: 836
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.421968e6

QD
type: SiteQuality
SIO_000300: 1.057e1

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.002400960384153e-4
allele num: 9996
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6114
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 1.451777e6

QD
type: SiteQuality
SIO_000300: 1.18e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.27e-1

FS
type: SiteQuality
SIO_000300: 2.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.81e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.660556159701725e-5
allele num: 64370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6114
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.453278265358803e-5
allele num: 15496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 1.451777e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.81e-1

FS
type: SiteQuality
SIO_000300: 2.28e0

QD
type: SiteQuality
SIO_000300: 1.18e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.27e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

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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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 17

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.63025758069775e-4
allele num: 6134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.481774468745153e-4
allele num: 64470
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

DP
type: SiteQuality
SIO_000300: 1.458123e6

FS
type: SiteQuality
SIO_000300: 6.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

QD
type: SiteQuality
SIO_000300: 1.176e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1861
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GenotypeQuality
all individuals: 39
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.337938902268983e-5
allele num: 15778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64816
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.873e0

FS
type: SiteQuality
SIO_000300: 2.952e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.308e-1

DP
type: SiteQuality
SIO_000300: 1.469506e6

QD
type: SiteQuality
SIO_000300: 1.043e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3639
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
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: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.287726358148894e-5
allele num: 15904
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

DP
type: SiteQuality
SIO_000300: 1.479183e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.302e1

GenotypeQuality
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bin: 2.25e1
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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534401276621862e-5
allele num: 65172
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15940
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.271e1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.482242e6

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.873e0

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.03e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2421
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65692
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.577e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 165
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GenotypeQuality
all individuals: 8193
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.786651008025054e-5
allele num: 10218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
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: 65826
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.122199093914534e-5
allele num: 16334
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

QD
type: SiteQuality
SIO_000300: 1.075e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 5.84e-1

DP
type: SiteQuality
SIO_000300: 1.50858e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

GenotypeQuality
all individuals: 983
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
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: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519156564275514e-5
allele num: 65826
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

QD
type: SiteQuality
SIO_000300: 1.075e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

DP
type: SiteQuality
SIO_000300: 1.50858e6

GenotypeQuality
all individuals: 3793
bin: 7.75e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3283
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 10
allele frequency: 9.782821365681863e-4
allele num: 10222
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.511544e6

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 2.177e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.474e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.93e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 525
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1920
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8322
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2472
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
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: 8640
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.543664616969073e-5
allele num: 66026
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.952e0

QD
type: SiteQuality
SIO_000300: 1.274e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

DP
type: SiteQuality
SIO_000300: 1.518542e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2504
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
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variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 1930
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variant carriers: 4

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 1003
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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
all individuals: 8423
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.039012017633915e-5
allele num: 66236
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.215e1

FS
type: SiteQuality
SIO_000300: 1.3695e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.739e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.526011e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e-1

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

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 13

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8436
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.313743637204998e-4
allele num: 8644
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.659175239072069e-4
allele num: 66298
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

MQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.033e0

QD
type: SiteQuality
SIO_000300: 1.503e1

DP
type: SiteQuality
SIO_000300: 1.528098e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506750241080039e-5
allele num: 66368
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.530019e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.083e1

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.705e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-2

FS
type: SiteQuality
SIO_000300: 1.774e0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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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GenotypeQuality
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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: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.530743e6

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.52e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.63e-1

MQ
type: SiteQuality
SIO_000300: 5.852e1

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: 4
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GenotypeQuality
all individuals: 26
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GenotypeQuality
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GenotypeQuality
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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: 1939
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2514
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.11e-1

QD
type: SiteQuality
SIO_000300: 1.142e1

DP
type: SiteQuality
SIO_000300: 1.53091e6

FS
type: SiteQuality
SIO_000300: 6.481e0

VQSLOD
type: SiteQuality
SIO_000300: 5.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.45e-1

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8456
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3382
bin: 7.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506205566935775e-5
allele num: 66392
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.9227e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.55e0

MQRankSum
type: SiteQuality
SIO_000300: -5.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.691e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.531241e6

QD
type: SiteQuality
SIO_000300: 1.204e1

GenotypeQuality
all individuals: 1972
bin: 9.75e1
variant carriers: 32

GenotypeQuality
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bin: 4.75e1
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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 4.668815325762824e-4
allele num: 66398
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.699321047526673e-5
allele num: 10310
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.532864e6

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

QD
type: SiteQuality
SIO_000300: 1.375e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

GenotypeQuality
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bin: 2.75e1
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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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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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011141222523336e-5
allele num: 66420
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.4139e1

VQSLOD
type: SiteQuality
SIO_000300: -1.714e0

DP
type: SiteQuality
SIO_000300: 1.532842e6

QD
type: SiteQuality
SIO_000300: 1.478e1

MQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2005
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variant carriers: 53

GenotypeQuality
all individuals: 2511
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.469812630117973e-4
allele num: 8646
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.597402597402597e-4
allele num: 11550
num of homozygotes: 0

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

South Asian
type: Population
allele count: 16
allele frequency: 9.69227041434456e-4
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 31
allele frequency: 3.00329393528386e-3
allele num: 10322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 6.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

QD
type: SiteQuality
SIO_000300: 1.39e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.535468e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 16
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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: 25
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504709741490866e-5
allele num: 66458
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.722e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.534274e6

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 1.261e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.413e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 6
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.436e-1

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

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.902e1

FS
type: SiteQuality
SIO_000300: 1.914e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

QD
type: SiteQuality
SIO_000300: 1.266e1

GenotypeQuality
all individuals: 2
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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: 7

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
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 1006
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.016666165277819e-5
allele num: 66482
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.686168151879117e-5
allele num: 10324
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.447e0

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.634e0

DP
type: SiteQuality
SIO_000300: 1.535482e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.294e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 1980
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 168
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GenotypeQuality
all individuals: 6
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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: 23
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variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

East Asian
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European (Non-Finnish)
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MQRankSum
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MQ
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Other
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South Asian
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Latino
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FS
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MQ
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QD
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DP
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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African
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European (Finnish)
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South Asian
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VQSLOD
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BaseQRankSum
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DP
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FS
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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African
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South Asian
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ReadPosRankSum
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MQRankSum
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MQ
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DP
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BaseQRankSum
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ClippingRankSum
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FS
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VQSLOD
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Non-Finnish)
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South Asian
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QD
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FS
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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DP
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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Other
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European (Finnish)
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South Asian
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VQSLOD
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ReadPosRankSum
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QD
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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MQ
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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South Asian
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Latino
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQ
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DP
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VQSLOD
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ClippingRankSum
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FS
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

South Asian
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allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.964e1

DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.043e0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

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

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

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

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

South Asian
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QD
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DP
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MQ
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
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South Asian
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ClippingRankSum
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SIO_000300: -2.147e0

BaseQRankSum
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DP
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SIO_000300: 1.537316e6

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
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QD
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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SIO_000300: -1.158e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 3
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allele num: 10364
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.028e1

ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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DP
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QD
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FS
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SIO_000300: 3.67e-1

BaseQRankSum
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VQSLOD
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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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GenotypeQuality
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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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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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Other
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BaseQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

East 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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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66590
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MQRankSum
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FS
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
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allele num: 66590
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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Latino
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Other
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allele num: 906
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

FS
type: SiteQuality
SIO_000300: 4.373e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.105e1

VQSLOD
type: SiteQuality
SIO_000300: 9.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.327e0

DP
type: SiteQuality
SIO_000300: 1.537651e6

GenotypeQuality
all individuals: 2512
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8488
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3877
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38236
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1988
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 120
bin: 2.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.865e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 1.537621e6

MQRankSum
type: SiteQuality
SIO_000300: -1.44e0

FS
type: SiteQuality
SIO_000300: 1.259e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.066e1

GenotypeQuality
all individuals: 1016
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3876
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 38225
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8484
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.007990627534621e-5
allele num: 66578
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.538042e6

MQ
type: SiteQuality
SIO_000300: 5.867e1

VQSLOD
type: SiteQuality
SIO_000300: -9.520000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.729e0

FS
type: SiteQuality
SIO_000300: 1.103e0

MQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.43e-1

QD
type: SiteQuality
SIO_000300: 1.163e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-2

GenotypeQuality
all individuals: 1008
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 38224
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variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3877
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8485
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.094e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.185e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.14e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.537755e6

VQSLOD
type: SiteQuality
SIO_000300: -6.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8483
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3876
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2512
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38213
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 9.75e1
variant carriers: 1

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 1.1201e1

DP
type: SiteQuality
SIO_000300: 1.537485e6

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.527e0

QD
type: SiteQuality
SIO_000300: 1.124e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.264e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.54e-1

GenotypeQuality
all individuals: 1016
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3875
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38218
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8481
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1008
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3385
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.51089079164789e-5
allele num: 66570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

QD
type: SiteQuality
SIO_000300: 1.157e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.73e-1

FS
type: SiteQuality
SIO_000300: 1.103e0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

DP
type: SiteQuality
SIO_000300: 1.538049e6

GenotypeQuality
all individuals: 1008
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 38185
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2511
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1995
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1016
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3385
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3876
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.537493e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 9.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.091e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.54e-1

FS
type: SiteQuality
SIO_000300: 5.465e0

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

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

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

GenotypeQuality
all individuals: 38160
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

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

GenotypeQuality
all individuals: 1016
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3873
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8471
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3384
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502629601803156e-5
allele num: 66550
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.781e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.983e0

DP
type: SiteQuality
SIO_000300: 1.537007e6

QD
type: SiteQuality
SIO_000300: 9.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e0

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

GenotypeQuality
all individuals: 196
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38128
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8466
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variant carriers: 0

GenotypeQuality
all individuals: 3872
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1016
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1998
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 3385
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GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215509906405737e-4
allele num: 16454
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.65e-1

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 2.209e0

DP
type: SiteQuality
SIO_000300: 1.536971e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.009e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
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GenotypeQuality
all individuals: 3
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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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bin: 9.75e1
variant carriers: 1370

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 976
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 32
allele frequency: 2.76529554096094e-3
allele num: 11572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 90
allele frequency: 1.360749924402782e-2
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 28
allele frequency: 2.701138336870538e-3
allele num: 10366
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.518763796909493e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1088
allele frequency: 1.634861006761833e-2
allele num: 66550
num of homozygotes: 10

South Asian
type: Population
allele count: 137
allele frequency: 8.327255044979333e-3
allele num: 16452
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.091e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

FS
type: SiteQuality
SIO_000300: 5.31e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 4.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

DP
type: SiteQuality
SIO_000300: 1.655853e6

QD
type: SiteQuality
SIO_000300: 1.226e1

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 33
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variant carriers: 0

GenotypeQuality
all individuals: 355
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.202862813496121e-4
allele num: 66508
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.654373431164318e-5
allele num: 10358
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.781428324399101e-4
allele num: 11566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.62e-1

DP
type: SiteQuality
SIO_000300: 1.558502e6

QD
type: SiteQuality
SIO_000300: 1.353e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 1012
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2529
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.13195977434388e-5
allele num: 16308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66478
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.96e-1

QD
type: SiteQuality
SIO_000300: 1.64e1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

MQ
type: SiteQuality
SIO_000300: 5.761e1

DP
type: SiteQuality
SIO_000300: 1.556276e6

MQRankSum
type: SiteQuality
SIO_000300: -7.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.309e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.95e-1

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 1012
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 14
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8351
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.143260842855388e-5
allele num: 16278
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: -1.692e0

FS
type: SiteQuality
SIO_000300: 7.018e0

DP
type: SiteQuality
SIO_000300: 1.555222e6

MQ
type: SiteQuality
SIO_000300: 5.843e1

QD
type: SiteQuality
SIO_000300: 1.066e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.595e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1080
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variant carriers: 0

GenotypeQuality
all individuals: 37047
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66394
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.48e-1

DP
type: SiteQuality
SIO_000300: 1.550767e6

ClippingRankSum
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SIO_000300: -5.83e-1

VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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SIO_000300: 7.61e-1

ReadPosRankSum
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SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2525
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GenotypeQuality
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bin: 7.25e1
variant carriers: 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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509570678099149e-5
allele num: 66244
num of homozygotes: 0

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

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

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
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
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QD
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BaseQRankSum
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FS
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MQ
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SIO_000300: 5.965e1

VQSLOD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2463
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1080
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
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: 2
allele frequency: 3.021148036253776e-5
allele num: 66200
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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

FS
type: SiteQuality
SIO_000300: 1.266e0

DP
type: SiteQuality
SIO_000300: 1.536007e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.448e1

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1080
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15692
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.533365570599613e-5
allele num: 66176
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.531797e6

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

QD
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VQSLOD
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SIO_000300: -1.522e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 5.66e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.177e0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.025810160670519e-5
allele num: 66098
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15522
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.409e1

VQSLOD
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SIO_000300: 1.27e0

ClippingRankSum
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SIO_000300: -3.74e-1

FS
type: SiteQuality
SIO_000300: 6.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.01e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 6.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.522373e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66054
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.704968944099378e-5
allele num: 10304
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15476
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 1.519357e6

VQSLOD
type: SiteQuality
SIO_000300: -3.041e0

MQ
type: SiteQuality
SIO_000300: 5.742e1

MQRankSum
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SIO_000300: 1.19e0

ReadPosRankSum
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SIO_000300: -1.369e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

FS
type: SiteQuality
SIO_000300: 1.8509e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.242e0

QD
type: SiteQuality
SIO_000300: 1.699e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
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: 15390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515381118351265e-5
allele num: 65990
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.85e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 4.1e-3

ClippingRankSum
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QD
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MQ
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -1.319e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.51212e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11550
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.515748628247491e-5
allele num: 65974
num of homozygotes: 0

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

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
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num of homozygotes: 0

QD
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15274
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65948
num of homozygotes: 0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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allele frequency: 0.0e0
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Latino
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South Asian
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allele frequency: 6.648052120728626e-5
allele num: 15042
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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FS
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ClippingRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2601
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7653
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2469
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1010
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3798
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3228
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523461304082876e-5
allele num: 65640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14770
num of homozygotes: 0

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

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

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

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

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