19-19638854-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638854
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638854
    reference: chr 19
allele count: 1
allele frequency: 8.66836566633727e-6
allele num: 115362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*125C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.603C>T
  hgvsp: ENST00000252576.5:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+275C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.364C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+275C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*187C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.354C>T
  hgvsp: ENST00000507754.4:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.354C>T
  hgvsp: ENST00000512771.3:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+275C>T
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro118Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-19638857-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638857
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638857
    reference: chr 19
allele count: 1
allele frequency: 8.666112035496396e-6
allele num: 115392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.367C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*190C>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.606C>G
  hgvsp: ENST00000252576.5:c.606C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+278C>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*128C>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.357C>G
  hgvsp: ENST00000507754.4:c.357C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+278C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+278C>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.357C>G
  hgvsp: ENST00000512771.3:c.357C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro119Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

19-19638857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638857
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638857
    reference: chr 19
allele count: 2
allele frequency: 1.733222407099279e-5
allele num: 115392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.357C>T
  hgvsp: ENST00000507754.4:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.606C>T
  hgvsp: ENST00000252576.5:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*190C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*128C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.367C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+278C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.357C>T
  hgvsp: ENST00000512771.3:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+278C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+278C>T
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro119Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

19-19638863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638863
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638863
    reference: chr 19
allele count: 2
allele frequency: 1.734485031394179e-5
allele num: 115308
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+284C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+284C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*196C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.363C>T
  hgvsp: ENST00000512771.3:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+284C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.373C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.363C>T
  hgvsp: ENST00000507754.4:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.612C>T
  hgvsp: ENST00000252576.5:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*134C>T
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13222
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile121Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

19-19638864-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638864
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638864
    reference: chr 19
allele count: 2
allele frequency: 1.734154166305385e-5
allele num: 115330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+285G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.613G>A
  hgvsp: ENSP00000252576.5:p.Gly205Arg
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*197G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*135G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.364G>A
  hgvsp: ENSP00000423673.1:p.Gly122Arg
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.374G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.364G>A
  hgvsp: ENSP00000465471.4:p.Gly122Arg
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+285G>A
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+285G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31826
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly122Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

19-19638867-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638867
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638867
    reference: chr 19
allele count: 1
allele frequency: 8.658758334054896e-6
allele num: 115490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.377G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.616G>C
  hgvsp: ENSP00000252576.5:p.Glu206Gln
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*200G>C
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+288G>C
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.367G>C
  hgvsp: ENSP00000423673.1:p.Glu123Gln
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+288G>C
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*138G>C
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.367G>C
  hgvsp: ENSP00000465471.4:p.Glu123Gln
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+288G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu123Gln
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

19-19638872-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638872
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638872
    reference: chr 19
allele count: 1
allele frequency: 8.657708823936834e-6
allele num: 115504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.621G>C
  hgvsp: ENST00000252576.5:c.621G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+293G>C
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*205G>C
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.382G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+293G>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.372G>C
  hgvsp: ENST00000507754.4:c.372G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+293G>C
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*143G>C
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.372G>C
  hgvsp: ENST00000512771.3:c.372G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13517
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu124Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

19-19638875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638875
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638875
    reference: chr 19
allele count: 27
allele frequency: 2.338917860669797e-4
allele num: 115438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*146C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.385C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+296C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.375C>T
  hgvsp: ENST00000512771.3:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+296C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.375C>T
  hgvsp: ENST00000507754.4:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+296C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*208C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.624C>T
  hgvsp: ENST00000252576.5:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30906
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13447
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr125Tyr
num of homozygotes: 2
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum

19-19638876-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638876
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638876
    reference: chr 19
allele count: 2
allele frequency: 1.731661702569786e-5
allele num: 115496
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.376G>A
  hgvsp: ENSP00000423673.1:p.Gly126Arg
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.386G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.625G>A
  hgvsp: ENSP00000252576.5:p.Gly209Arg
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*209G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+297G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*147G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.376G>A
  hgvsp: ENSP00000465471.4:p.Gly126Arg
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+297G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+297G>A
  variant of: http://identifiers.org/hgnc/24785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13453
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly126Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-19638880-TGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638880
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638878
    reference: chr 19
allele count: 5
allele frequency: 4.321894718644654e-5
allele num: 115690
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.383_384delGC
  hgvsp: ENSP00000423673.1:p.Arg128HisfsTer?
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.393_394delGC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*216_*217delGC
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.632_633delGC
  hgvsp: ENSP00000252576.5:p.Arg211HisfsTer?
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.383_384delGC
  hgvsp: ENSP00000465471.4:p.Arg128HisfsTer31
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+304_315+305delGC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*154_*155delGC
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+304_315+305delGC
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+304_315+305delGC
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13441
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg128HisfsTer?
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: TGC
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

19-19638882-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638882
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638882
    reference: chr 19
allele count: 4
allele frequency: 3.461944574267366e-5
allele num: 115542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.392C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*215C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*153C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.382C>T
  hgvsp: ENSP00000465471.4:p.Arg128Cys
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+303C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.382C>T
  hgvsp: ENSP00000423673.1:p.Arg128Cys
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.631C>T
  hgvsp: ENSP00000252576.5:p.Arg211Cys
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+303C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+303C>T
  variant of: http://identifiers.org/hgnc/24785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13488
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg128Cys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

19-19638883-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638883
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638883
    reference: chr 19
allele count: 4
allele frequency: 3.458711629917856e-5
allele num: 115650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+304G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.383G>A
  hgvsp: ENSP00000423673.1:p.Arg128His
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.383G>A
  hgvsp: ENSP00000465471.4:p.Arg128His
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.632G>A
  hgvsp: ENSP00000252576.5:p.Arg211His
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+304G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*154G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+304G>A
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.393G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*216G>A
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13513
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg128His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

19-19638884-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638884
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638884
    reference: chr 19
allele count: 7
allele frequency: 6.045427066240608e-5
allele num: 115790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.384C>T
  hgvsp: ENST00000512771.3:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.633C>T
  hgvsp: ENST00000252576.5:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+305C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+305C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.394C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+305C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*155C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*217C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.384C>T
  hgvsp: ENST00000507754.4:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13572
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg128Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

19-19638892-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638892
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638892
    reference: chr 19
allele count: 3
allele frequency: 2.587277494135504e-5
allele num: 115952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*163A>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.392A>G
  hgvsp: ENSP00000465471.4:p.Glu131Gly
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+313A>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+313A>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.641A>G
  hgvsp: ENSP00000252576.5:p.Glu214Gly
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.402A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.392A>G
  hgvsp: ENSP00000423673.1:p.Glu131Gly
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*225A>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+313A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13740
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Glu131Gly
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

19-19638905-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638905
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638905
    reference: chr 19
allele count: 1
allele frequency: 8.614154779133072e-6
allele num: 116088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*176T>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+326T>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+326T>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*238T>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.405T>G
  hgvsp: ENSP00000465471.4:p.His135Gln
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+326T>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.405T>G
  hgvsp: ENSP00000423673.1:p.His135Gln
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.415T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.654T>G
  hgvsp: ENSP00000252576.5:p.His218Gln
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5691
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His135Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-19638906-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638906
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638906
    reference: chr 19
allele count: 2
allele frequency: 1.723840717117738e-5
allele num: 116020
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.406G>T
  hgvsp: ENSP00000423673.1:p.Ala136Ser
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+327G>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*239G>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.655G>T
  hgvsp: ENSP00000252576.5:p.Ala219Ser
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.416G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+327G>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*177G>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.406G>T
  hgvsp: ENSP00000465471.4:p.Ala136Ser
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+327G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala136Ser
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

19-19638912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638912
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638912
    reference: chr 19
allele count: 1
allele frequency: 8.598600147895923e-6
allele num: 116298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.422C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.412C>T
  hgvsp: ENSP00000465471.4:p.His138Tyr
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*245C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.412C>T
  hgvsp: ENSP00000423673.1:p.His138Tyr
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+333C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.661C>T
  hgvsp: ENSP00000252576.5:p.His221Tyr
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+333C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+333C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*183C>T
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His138Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-19638914-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638914
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638914
    reference: chr 19
allele count: 6
allele frequency: 5.161379120500998e-5
allele num: 116248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+335C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.424C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+335C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.414C>T
  hgvsp: ENST00000512771.3:c.414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*185C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*247C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+335C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.414C>T
  hgvsp: ENST00000507754.4:c.414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.663C>T
  hgvsp: ENST00000252576.5:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14908
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31701
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His138His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

19-19638931-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638931
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638931
    reference: chr 19
allele count: 1
allele frequency: 8.58619682997613e-6
allele num: 116466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.435+6C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*202C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+352C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+352C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.680C>T
  hgvsp: ENSP00000252576.5:p.Thr227Met
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+352C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.431C>T
  hgvsp: ENSP00000423673.1:p.Thr144Met
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.425+6C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*264C>T
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32185
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr144Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

19-19638939-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638939
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638939
    reference: chr 19
allele count: 8
allele frequency: 6.87096330905593e-5
allele num: 116432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.*4C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+360C>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.*4C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.425+14C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+360C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+360C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.435+14C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*210C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*272C>T
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15066
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5848
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-19638941-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638941
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638941
    reference: chr 19
allele count: 3
allele frequency: 2.576699762943622e-5
allele num: 116428
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+362G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.425+16G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.*6G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*274G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+362G>A
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*212G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.435+16G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.*6G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+362G>A
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31138
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37851
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

19-19638945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638945
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638945
    reference: chr 19
allele count: 1
allele frequency: 8.596382642184169e-6
allele num: 116328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+366C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.435+20C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+366C>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.*10C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.*10C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*216C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+366C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*278C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.425+20C>T
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36481
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

19-19638949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638949
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638949
    reference: chr 19
allele count: 7
allele frequency: 6.019848299822844e-5
allele num: 116282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+370C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+370C>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.*14C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.*14C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*220C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.435+24C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*282C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.425+24C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+370C>T
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14865
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30333
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3992
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-19638955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638955
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638955
    reference: chr 19
allele count: 3
allele frequency: 2.579446966570367e-5
allele num: 116304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*288C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+376C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.*20C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.*20C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.425+30C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+376C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*226C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.435+30C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+376C>T
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4138
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-19638961-TCCCTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638961
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638956
    reference: chr 19
allele count: 1
allele frequency: 8.607777988190129e-6
allele num: 116174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+386_315+390delTGCCC
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*298_*302delTGCCC
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.435+40_435+44delTGCCC
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.*30_*34delTGCCC
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.425+40_425+44delTGCCC
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.*30_*34delTGCCC
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+386_315+390delTGCCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.315+386_315+390delTGCCC
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*236_*240delTGCCC
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33259
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5476
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: TCCCTG
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

19-19638973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638973
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638973
    reference: chr 19
allele count: 1
allele frequency: 8.625448523323213e-6
allele num: 115936
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+394C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.435+48C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.425+48C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+394C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.*38C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.316-392C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*306C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.*38C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*244C>T
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29420
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

19-19638974-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638974
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638974
    reference: chr 19
allele count: 1
allele frequency: 8.626192571122958e-6
allele num: 115926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*307C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.*39C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*245C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.316-391C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.435+49C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.425+49C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.*39C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+395C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+395C>T
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8830
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: FS

19-19638983-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638983
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638983
    reference: chr 19
allele count: 7
allele frequency: 6.061130833838428e-5
allele num: 115490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.435+58C>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.*48C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+404C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*254C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+404C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.*48C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*316C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.425+58C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.316-382C>T
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25178
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11989
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9611
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4686
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3551
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22845
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

19-19638984-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638984
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638984
    reference: chr 19
allele count: 10
allele frequency: 8.676789587852495e-5
allele num: 115250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.435+59G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+405G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.425+59G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.*49G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+405G>A
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.316-381G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*317G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.*49G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*255G>A
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25142
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9599
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3815
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD

19-19638984-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19638984
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19638984
    reference: chr 19
allele count: 2
allele frequency: 1.735357917570499e-5
allele num: 115250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.435+59G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000476093
  ensembl transcript: ENST00000606722
  gene symbol: NDUFA13
  hgvsc: ENST00000606722.1:c.*255G>C
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000423673
  ensembl transcript: ENST00000507754
  gene symbol: NDUFA13
  hgvsc: ENST00000507754.4:c.*49G>C
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.425+59G>C
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.316-381G>C
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000467274
  ensembl transcript: ENST00000502506
  gene symbol: NDUFA13
  hgvsc: ENST00000502506.2:c.*317G>C
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+405G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000252576
  ensembl transcript: ENST00000252576
  gene symbol: NDUFA13
  hgvsc: ENST00000252576.5:c.*49G>C
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+405G>C
  variant of: http://identifiers.org/hgnc/24785
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25142
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

19-19639333-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639333
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639333
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 12
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.435+408C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+754C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.425+408C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+754C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.316-32C>T
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-19639448-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639448
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639448
    reference: chr 19
allele count: 6
allele frequency: 3.0e-1
allele num: 20
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*36C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.425+523C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.435+523C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+869C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+869C>T
  variant of: http://identifiers.org/hgnc/24785
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 2.5e0
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 7.5e0
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-19639692-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639692
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639692
    reference: chr 19
allele count: 1
allele frequency: 8.012820512820513e-5
allele num: 12480
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.2A>C
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*280A>C
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.-50A>C
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-481A>C
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1113A>C
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-481A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1113A>C
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

19-19639712-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639712
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639712
    reference: chr 19
allele count: 1
allele frequency: 7.939028262940616e-5
allele num: 12596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.22C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.-30C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-461C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*300C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.-30C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1133C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1133C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-461C>T
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff

19-19639718-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639718
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639718
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 12720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-455C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*306C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.-24C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1139C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.-24C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-455C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1139C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.28C>T
  variant of: http://identifiers.org/hgnc/24785
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

19-19639719-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639719
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639719
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 12732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-454C>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1140C>G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.-23C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.29C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-454C>G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.-23C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*307C>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1140C>G
  variant of: http://identifiers.org/hgnc/24785
canonical: true
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

19-19639719-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639719
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639719
    reference: chr 19
allele count: 2
allele frequency: 1.570845114671693e-4
allele num: 12732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1140C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*307C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.-23C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1140C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-454C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.-23C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-454C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.29C>T
  variant of: http://identifiers.org/hgnc/24785
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

19-19639724-C-CCCGGGCTCACCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639724
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639736
    reference: chr 19
allele count: 2
allele frequency: 1.549186676994578e-4
allele num: 12910
alternate allele: CCCGGGCTCACCT
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

19-19639727-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639727
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639727
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 13104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*315G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-446G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.-15G>A
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.-15G>A
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-446G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1148G>A
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.37G>A
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1148G>A
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-19639733-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639733
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639733
    reference: chr 19
allele count: 1
allele frequency: 7.359434795407713e-5
allele num: 13588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1154A>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.43A>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.-9A>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1154A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-440A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-440A>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*321A>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.-9A>G
  variant of: http://identifiers.org/hgnc/24785
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-19639739-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639739
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639738
    reference: chr 19
allele count: 1
allele frequency: 7.105300554213443e-5
allele num: 14074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*329delC
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-432delC
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.-1delC
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.-1delC
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1162delC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1162delC
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-432delC
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.51delC
  variant of: http://identifiers.org/hgnc/24785
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: GC
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

19-19639740-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639740
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639740
    reference: chr 19
allele count: 1
allele frequency: 7.051191651389085e-5
allele num: 14182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-433C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-433C>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.50C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.-2C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*328C>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1161C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.-2C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1161C>G
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-19639741-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639741
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639741
    reference: chr 19
allele count: 1
allele frequency: 7.004763239002522e-5
allele num: 14276
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1162C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*329C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-432C>T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.-1C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.51C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1162C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.-1C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-432C>T
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

19-19639747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639747
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639747
    reference: chr 19
allele count: 3
allele frequency: 2.045547524887495e-4
allele num: 14666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1168C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*335C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-426C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.57C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-426C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.6C>T
  hgvsp: ENST00000436027.5:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.6C>T
  hgvsp: ENST00000514277.4:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1168C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser2Ser
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

19-19639750-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639750
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639750
    reference: chr 19
allele count: 1
allele frequency: 6.740361283364789e-5
allele num: 14836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1171C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.9C>T
  hgvsp: ENST00000514277.4:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-423C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.9C>T
  hgvsp: ENST00000436027.5:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*338C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1171C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.60C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-423C>T
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4267
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser3Ser
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

19-19639766-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639766
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639766
    reference: chr 19
allele count: 4
allele frequency: 2.494698765124111e-4
allele num: 16034
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.25C>G
  hgvsp: ENSP00000426964.1:p.Pro9Ala
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.25C>G
  hgvsp: ENSP00000398520.2:p.Pro9Ala
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1187C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.76C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*354C>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-407C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1187C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-407C>G
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4166
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro9Ala
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

19-19639770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639770
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639770
    reference: chr 19
allele count: 1
allele frequency: 6.129704548240775e-5
allele num: 16314
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.29C>T
  hgvsp: ENSP00000426964.1:p.Ser10Leu
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-403C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.80C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*358C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1191C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.29C>T
  hgvsp: ENSP00000398520.2:p.Ser10Leu
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-403C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1191C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser10Leu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

19-19639771-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639771
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639771
    reference: chr 19
allele count: 1
allele frequency: 6.027000964320154e-5
allele num: 16592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.30G>A
  hgvsp: ENST00000436027.5:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.81G>A
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.30G>A
  hgvsp: ENST00000514277.4:c.30G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1192G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-402G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-402G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1192G>A
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*359G>A
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4507
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser10Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

19-19639773-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639773
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639773
    reference: chr 19
allele count: 1
allele frequency: 5.959475566150179e-5
allele num: 16780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*361A>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.32A>T
  hgvsp: ENSP00000426964.1:p.Glu11Val
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-400A>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.32A>T
  hgvsp: ENSP00000398520.2:p.Glu11Val
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1194A>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1194A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.83A>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-400A>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4564
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu11Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum

19-19639780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639780
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639780
    reference: chr 19
allele count: 1
allele frequency: 5.809900069718801e-5
allele num: 17212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-393C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*368C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1201C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.90C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.39C>T
  hgvsp: ENST00000514277.4:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.39C>T
  hgvsp: ENST00000436027.5:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-393C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1201C>T
  variant of: http://identifiers.org/hgnc/24785
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5057
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro13Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/19-19639783-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639783
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639783
    reference: chr 19
allele count: 2
allele frequency: 1.142595978062157e-4
allele num: 17504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-390A>C
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1204A>C
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.42A>C
  hgvsp: ENSP00000398520.2:p.Glu14Asp
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-390A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.93A>C
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.42A>C
  hgvsp: ENSP00000426964.1:p.Glu14Asp
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1204A>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*371A>C
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu14Asp
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: A
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

19-19639783-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639783
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639783
    reference: chr 19
allele count: 4
allele frequency: 2.285191956124314e-4
allele num: 17504
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1204A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.42A>G
  hgvsp: ENST00000436027.5:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*371A>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.42A>G
  hgvsp: ENST00000514277.4:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-390A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.93A>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-390A>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1204A>G
  variant of: http://identifiers.org/hgnc/24785
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5442
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu14Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

19-19639789-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639789
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639789
    reference: chr 19
allele count: 1
allele frequency: 5.605381165919283e-5
allele num: 17840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-384G>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.99G>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1210G>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.48G>T
  hgvsp: ENST00000514277.4:c.48G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-384G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1210G>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.48G>T
  hgvsp: ENST00000436027.5:c.48G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*377G>T
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5679
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg16Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

19-19639790-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639790
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639790
    reference: chr 19
allele count: 1
allele frequency: 5.587216448765225e-5
allele num: 17898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1211C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1211C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*378C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-383C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.49C>T
  hgvsp: ENSP00000426964.1:p.His17Tyr
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-383C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.49C>T
  hgvsp: ENSP00000398520.2:p.His17Tyr
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.100C>T
  variant of: http://identifiers.org/hgnc/24785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5748
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His17Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS

19-19639815-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639815
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639815
    reference: chr 19
allele count: 1
allele frequency: 5.513287021722351e-5
allele num: 18138
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1236G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.110+15G>A
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1236G>A
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.59+15G>A
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-358G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*403G>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-358G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.59+15G>A
  variant of: http://identifiers.org/hgnc/24785
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5955
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

19-19639828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639828
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639828
    reference: chr 19
allele count: 276
allele frequency: 1.527562541509852e-2
allele num: 18068
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1249C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-345C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1249C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.59+28C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.59+28C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.110+28C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*416C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-345C>T
  variant of: http://identifiers.org/hgnc/17194
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 2.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 3.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 7176
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 3.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 2.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 9.75e1
  variant carriers: 266
genotype quality: GenotypeQuality
  all individuals: 5725
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 4
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

19-19639849-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19639849
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19639849
    reference: chr 19
allele count: 1
allele frequency: 5.60475283040018e-5
allele num: 17842
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.59+49C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000468317
  ensembl transcript: ENST00000503283
  gene symbol: NDUFA13
  hgvsc: ENST00000503283.1:c.*437C>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-324C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-324C>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.59+49C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.110+49C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1270C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1270C>G
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8005
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/19-19640124-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19640124
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19640124
    reference: chr 19
allele count: 4
allele frequency: 4.132914531327492e-5
allele num: 96784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.59+324C>A
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1545C>A
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-49C>A
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.60-49C>A
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-49C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.110+324C>A
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1545C>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10236
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14319
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15942
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4417
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8106
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

19-19640125-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19640125
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19640125
    reference: chr 19
allele count: 1
allele frequency: 1.027897128055424e-5
allele num: 97286
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1546C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1546C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-48C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.60-48C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.59+325C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-48C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.110+325C>T
  variant of: http://identifiers.org/hgnc/24785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13715
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4354
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff

19-19640130-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19640130
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19640130
    reference: chr 19
allele count: 1
allele frequency: 1.014095933475307e-5
allele num: 98610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1551C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.59+330C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.60-43C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-43C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.110+330C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1551C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-43C>T
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8809
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5698
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-19640133-ACCCCAACCGTGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19640133
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19640121
    reference: chr 19
allele count: 1
allele frequency: 1.001101211332466e-5
allele num: 99890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4624
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: ACCCCAACCGTGG
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD

19-19640134-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19640134
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19640134
    reference: chr 19
allele count: 136
allele frequency: 1.356256731421277e-3
allele num: 100276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.110+334C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.60-39C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1555C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1555C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-39C>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-39C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.59+334C>G
  variant of: http://identifiers.org/hgnc/24785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13191
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20555
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5289
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 8771
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4276
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5502
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 3
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

19-19640145-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19640145
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19640145
    reference: chr 19
allele count: 2
allele frequency: 1.938886303707151e-5
allele num: 103152
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.60-28G>C
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1566G>C
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.59+345G>C
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.110+345G>C
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-28G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-28G>C
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1566G>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD

19-19640145-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19640145
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19640144
    reference: chr 19
allele count: 4
allele frequency: 3.877772607414301e-5
allele num: 103152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-25delC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.59+348delC
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.110+348delC
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1569delC
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1569delC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.60-25delC
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-25delC
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26206
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: GC
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

19-19640148-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19640148
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19640148
    reference: chr 19
allele count: 1
allele frequency: 9.574692173646618e-6
allele num: 104442
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.60-25C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.110+348C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-25C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-25C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.59+348C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1569C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1569C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8122
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27798
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-19640150-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19640150
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19640150
    reference: chr 19
allele count: 1
allele frequency: 9.52217715058371e-6
allele num: 105018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1571C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.110+350C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-23C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-23C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1571C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.59+350C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.60-23C>T
  variant of: http://identifiers.org/hgnc/24785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8064
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

19-19640152-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19640152
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19640152
    reference: chr 19
allele count: 2
allele frequency: 1.890430640099815e-5
allele num: 105796
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1573C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-21C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-21C>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1573C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.59+352C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.110+352C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.60-21C>G
  variant of: http://identifiers.org/hgnc/24785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5835
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7847
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

19-19640153-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19640153
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19640153
    reference: chr 19
allele count: 2
allele frequency: 1.884410273804813e-5
allele num: 106134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1574C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-20C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1574C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.60-20C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.110+353C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.59+353C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-20C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

19-19640154-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19640154
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19640154
    reference: chr 19
allele count: 1
allele frequency: 9.394964299135663e-6
allele num: 106440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-19C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-19C>G
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1575C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.60-19C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.110+354C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.59+354C>G
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1575C>G
  variant of: http://identifiers.org/hgnc/24785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7580
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5988
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-19640155-ACTCTCCAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19640155
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19640147
    reference: chr 19
allele count: 1
allele frequency: 9.370841689000507e-6
allele num: 106714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-11_436-4delATCTCTCC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.60-11_60-4delATCTCTCC
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-11_426-4delATCTCTCC
  variant of: http://identifiers.org/hgnc/17194
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7436
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: ACTCTCCAT
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

19-19640158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19640158
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 19640158
    reference: chr 19
allele count: 1
allele frequency: 9.298346753947148e-6
allele num: 107546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186010
  ensembl protein: ENSP00000465471
  ensembl transcript: ENST00000512771
  gene symbol: NDUFA13
  hgvsc: ENST00000512771.3:c.426-15C>T
  variant of: http://identifiers.org/hgnc/17194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl transcript: ENST00000458210
  gene symbol: YJEFN3
  hgvsc: ENST00000458210.3:n.110+358C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000426964
  ensembl transcript: ENST00000514277
  gene symbol: YJEFN3
  hgvsc: ENST00000514277.4:c.60-15C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000477181
  ensembl transcript: ENST00000608404
  gene symbol: YJEFN3
  hgvsc: ENST00000608404.1:c.315+1579C>T
  variant of: http://identifiers.org/hgnc/24785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl protein: ENSP00000452549
  ensembl transcript: ENST00000555938
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000555938.1:c.315+1579C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258674
  ensembl transcript: ENST00000586674
  gene symbol: CTC-260F20.3
  hgvsc: ENST00000586674.1:n.436-15C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000250067
  ensembl protein: ENSP00000398520
  ensembl transcript: ENST00000436027
  gene symbol: YJEFN3
  hgvsc: ENST00000436027.5:c.59+358C>T
  variant of: http://identifiers.org/hgnc/24785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 925
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1742
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37423
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5360
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
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: 846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57114127702363e-5
allele num: 63648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.372066e6

MQRankSum
type: SiteQuality
SIO_000300: -1.205e0

VQSLOD
type: SiteQuality
SIO_000300: -1.968e0

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.892e1

FS
type: SiteQuality
SIO_000300: 6.439e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 1045
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37161
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4187
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5360
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63674
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.188777936281503e-4
allele num: 8412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15856
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5816
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.2e1

DP
type: SiteQuality
SIO_000300: 1.371041e6

VQSLOD
type: SiteQuality
SIO_000300: -8.964e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.57e-1

FS
type: SiteQuality
SIO_000300: 1.3332e1

MQRankSum
type: SiteQuality
SIO_000300: 8.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.32e0

GenotypeQuality
all individuals: 4187
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5360
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 921
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1127
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.14099946603009e-5
allele num: 63674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.3332e1

QD
type: SiteQuality
SIO_000300: 1.2e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.964e-1

DP
type: SiteQuality
SIO_000300: 1.371041e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 922
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.312334301224592e-5
allele num: 15842
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57114127702363e-5
allele num: 63648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11072
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.297e1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

DP
type: SiteQuality
SIO_000300: 1.36901e6

FS
type: SiteQuality
SIO_000300: 4.435e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.15e-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
all individuals: 1014
bin: 9.75e1
variant carriers: 2

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.725923369002416e-4
allele num: 5794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15874
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.030927835051546e-4
allele num: 9700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63630
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.683e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.3696e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.859e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

GenotypeQuality
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bin: 3.75e1
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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GenotypeQuality
all individuals: 373
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63752
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.029018316526034e-4
allele num: 9718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

QD
type: SiteQuality
SIO_000300: 1.538e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.365461e6

GenotypeQuality
all individuals: 4261
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 1767
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.569021244547651e-5
allele num: 63734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11074
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15884
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.331e0

VQSLOD
type: SiteQuality
SIO_000300: 5.42e-1

DP
type: SiteQuality
SIO_000300: 1.367028e6

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.462e0

QD
type: SiteQuality
SIO_000300: 1.171e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 23

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4251
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variant carriers: 0

GenotypeQuality
all individuals: 5262
bin: 6.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 1
allele frequency: 9.038322487346348e-5
allele num: 11064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5756
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.027960526315789e-4
allele num: 9728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.138337936228973e-5
allele num: 63728
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.187648456057007e-3
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 22
allele frequency: 1.385739480977576e-3
allele num: 15876
num of homozygotes: 2

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

DP
type: SiteQuality
SIO_000300: 1.369341e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.327e1

FS
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

GenotypeQuality
all individuals: 1085
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1708
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.138436430970091e-5
allele num: 63726
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -9.003e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.369522e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

QD
type: SiteQuality
SIO_000300: 1.859e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: -7.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.82e-1

GenotypeQuality
all individuals: 1815
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 1734
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.699689820471849e-5
allele num: 63834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.804728388377549e-4
allele num: 11082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.369157e6

MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

FS
type: SiteQuality
SIO_000300: 4.803e0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.13e-1

QD
type: SiteQuality
SIO_000300: 1.521e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

MQ
type: SiteQuality
SIO_000300: 6.039e1

GenotypeQuality
all individuals: 959
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 136
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GenotypeQuality
all individuals: 5358
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GenotypeQuality
all individuals: 1687
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GenotypeQuality
all individuals: 512
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.04649900488511e-5
allele num: 11054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.706029993097823e-5
allele num: 63748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.371429e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 6.616e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.59e-1

QD
type: SiteQuality
SIO_000300: 1.049e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

VQSLOD
type: SiteQuality
SIO_000300: 3.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

GenotypeQuality
all individuals: 1549
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1229
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GenotypeQuality
all individuals: 1427
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GenotypeQuality
all individuals: 53
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GenotypeQuality
all individuals: 707
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.80635838150289e-4
allele num: 11072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5764
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.25328988595062e-4
allele num: 15958
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

FS
type: SiteQuality
SIO_000300: 5.499e0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

QD
type: SiteQuality
SIO_000300: 1.025e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63880
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15970
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.169192953707497e-4
allele num: 9764
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.57e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

DP
type: SiteQuality
SIO_000300: 1.372741e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.483e0

QD
type: SiteQuality
SIO_000300: 1.223e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-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: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.989572096368213e-5
allele num: 11124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.127443315089914e-5
allele num: 63950
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5770
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.086e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562255897516013e-5
allele num: 64010
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16038
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.384352e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 9.16e0

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-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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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
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
allele num: 16028
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.125781445361341e-5
allele num: 63984
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.515e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.385809e6

GenotypeQuality
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bin: 7.5e0
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: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5756
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.227425582264292e-5
allele num: 16058
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64118
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.27e-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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bin: 9.75e1
variant carriers: 6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.239276243955701e-5
allele num: 64110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.017708121310808e-4
allele num: 9826
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.952551477170994e-5
allele num: 11170
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.923e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.395792e6

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

QD
type: SiteQuality
SIO_000300: 1.119e1

GenotypeQuality
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bin: 4.25e1
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
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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: 8520
num of homozygotes: 0

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

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

Other
type: Population
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5718
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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VQSLOD
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BaseQRankSum
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SIO_000300: -1.81e-1

ReadPosRankSum
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64160
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 7.135212272565109e-4
allele num: 11212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

QD
type: SiteQuality
SIO_000300: 1.069e1

DP
type: SiteQuality
SIO_000300: 1.396286e6

FS
type: SiteQuality
SIO_000300: 5.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

GenotypeQuality
all individuals: 507
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 7.5e0
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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: 1

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1882
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.676393565282454e-5
allele num: 64152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.393626e6

QD
type: SiteQuality
SIO_000300: 1.189e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.94e-1

FS
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

GenotypeQuality
all individuals: 169
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 608
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GenotypeQuality
all individuals: 1932
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559721745640578e-5
allele num: 64114
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.386875e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.892e0

MQRankSum
type: SiteQuality
SIO_000300: -4.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.041e0

QD
type: SiteQuality
SIO_000300: 5.59e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

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: 1918
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.238696890870804e-4
allele num: 16146
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.878203620973431e-4
allele num: 8506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64094
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.385657e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.055e1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

FS
type: SiteQuality
SIO_000300: 1.773e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 690
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
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variant carriers: 0

GenotypeQuality
all individuals: 1899
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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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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: 387
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variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64116
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.855976243504083e-4
allele num: 16164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.575e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

DP
type: SiteQuality
SIO_000300: 1.373209e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.134e1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.748e0

GenotypeQuality
all individuals: 262
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
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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
all individuals: 1866
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GenotypeQuality
all individuals: 1867
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variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.016260162601626e-4
allele num: 9840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64034
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.127e1

FS
type: SiteQuality
SIO_000300: 3.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

QD
type: SiteQuality
SIO_000300: 6.97e0

MQRankSum
type: SiteQuality
SIO_000300: -2.489e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 1.361803e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63916
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.197322756569162e-5
allele num: 16136
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.102e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.021e0

DP
type: SiteQuality
SIO_000300: 1.337447e6

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

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: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11166
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.017501017501017e-4
allele num: 9828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
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MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.43e-1

BaseQRankSum
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.33735e6

MQ
type: SiteQuality
SIO_000300: 5.79e1

FS
type: SiteQuality
SIO_000300: 2.366e0

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
all individuals: 2536
bin: 4.25e1
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GenotypeQuality
all individuals: 1792
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.179801793298726e-4
allele num: 8476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5490
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.193317422434368e-3
allele num: 838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.852252025881023e-5
allele num: 63676
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.087e0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2107
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.259049417689644e-4
allele num: 63540
num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
allele num: 838
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FS
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SIO_000300: 6.65e-1

BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.75e-1

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 4.2e-3

MQRankSum
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SIO_000300: 4.33e-1

QD
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MQ
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SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.322533e6

VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.245174947080065e-4
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 63540
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Latino
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allele frequency: 0.0e0
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ReadPosRankSum
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DP
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ClippingRankSum
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MQ
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QD
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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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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Latino
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allele frequency: NaN
allele num: 0
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South Asian
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allele frequency: NaN
allele num: 0
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European (Finnish)
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allele frequency: NaN
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East Asian
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allele num: 0
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: NaN
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DP
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SIO_000300: 8.913e3

ClippingRankSum
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SIO_000300: 7.27e-1

VQSLOD
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MQRankSum
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FS
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QD
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MQ
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.15e-1

ReadPosRankSum
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 13

GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 4
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East Asian
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allele frequency: NaN
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European (Finnish)
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allele frequency: NaN
allele num: 0
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South Asian
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Other
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allele frequency: NaN
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Latino
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allele frequency: NaN
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European (Non-Finnish)
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allele count: 6
allele frequency: 3.75e-1
allele num: 16
num of homozygotes: 0

FS
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InbreedingCoeff
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QD
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MQ
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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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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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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African
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East Asian
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allele frequency: 0.0e0
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Other
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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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FS
type: SiteQuality
SIO_000300: 7.474e0

MQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -4.23e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
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SIO_000300: 1.79197e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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African
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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Other
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Latino
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.945e0

MQ
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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QD
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SIO_000300: 4.25e0

FS
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InbreedingCoeff
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SIO_000300: -3.84e-2

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

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

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 103
bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4076
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.57e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.085e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

DP
type: SiteQuality
SIO_000300: 1.96298e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

QD
type: SiteQuality
SIO_000300: 1.732e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4390
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7630
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.545454545454545e-3
allele num: 220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.31e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.098e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

FS
type: SiteQuality
SIO_000300: 6.351e0

DP
type: SiteQuality
SIO_000300: 2.034e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.561e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.35e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.308557969118032e-4
allele num: 7642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.22e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.09055e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

QD
type: SiteQuality
SIO_000300: 1.626e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7642
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.09643605870021e-4
allele num: 4770
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.763e1

VQSLOD
type: SiteQuality
SIO_000300: -5.731000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.22e-2

QD
type: SiteQuality
SIO_000300: 8.49e0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.743e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.097e0

DP
type: SiteQuality
SIO_000300: 2.10217e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.064409578860446e-4
allele num: 4844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.11351e5

BaseQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.82e-1

FS
type: SiteQuality
SIO_000300: 6.872e0

QD
type: SiteQuality
SIO_000300: 1.352e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.917471924784539e-4
allele num: 7658
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.15768e5

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.34e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.059e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.286e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.305483028720627e-4
allele num: 7660
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 346
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 1166
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.389999999999999e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-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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variant carriers: 0

African
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allele count: 4
allele frequency: 2.8328611898017e-3
allele num: 1412
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

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

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.48e-2

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1382e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.30144e5

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 328
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Other
type: Population
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allele frequency: 0.0e0
allele num: 168
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.300390117035111e-4
allele num: 7690
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 6204
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African
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.74e-2

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.33713e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 19
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.565925461948011e-4
allele num: 6386
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1522
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7698
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.35e-1

FS
type: SiteQuality
SIO_000300: 9.62e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e0

DP
type: SiteQuality
SIO_000300: 2.3586e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.82e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.628e0

VQSLOD
type: SiteQuality
SIO_000300: -7.776e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

QD
type: SiteQuality
SIO_000300: 1.441e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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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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bin: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 1.296344309048483e-4
allele num: 7714
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1556
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.37722e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.83e-2

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.798e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

QD
type: SiteQuality
SIO_000300: 1.038e1

MQRankSum
type: SiteQuality
SIO_000300: 7.69e-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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1650
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7704
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.471453796350795e-4
allele num: 6796
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.529e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.95e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

QD
type: SiteQuality
SIO_000300: 1.535e1

DP
type: SiteQuality
SIO_000300: 2.4271e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.862049227246708e-4
allele num: 6988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.462e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.53e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.059e0

MQ
type: SiteQuality
SIO_000300: 5.864e1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

VQSLOD
type: SiteQuality
SIO_000300: -1.028e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.724098454493417e-4
allele num: 6988
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.028e0

MQ
type: SiteQuality
SIO_000300: 5.864e1

DP
type: SiteQuality
SIO_000300: 2.462e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.059e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.53e-2

QD
type: SiteQuality
SIO_000300: 1.173e1

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 520
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.298026998961578e-4
allele num: 7704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.668e1

DP
type: SiteQuality
SIO_000300: 2.50454e5

VQSLOD
type: SiteQuality
SIO_000300: -1.653e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.14e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.435e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

FS
type: SiteQuality
SIO_000300: 8.414999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.45e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 1.298026998961578e-4
allele num: 7704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7248
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 1814
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.05e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.25e-2

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.50926e5

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.209e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 562
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.336183858898984e-4
allele num: 7484
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1892
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 382
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7606
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European (Finnish)
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allele frequency: 0.0e0
allele num: 34
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.141e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.46e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.906e1

DP
type: SiteQuality
SIO_000300: 2.48589e5

VQSLOD
type: SiteQuality
SIO_000300: -2.393e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

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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variant carriers: 0

Latino
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allele count: 4
allele frequency: 1.041666666666667e-2
allele num: 384
num of homozygotes: 0

Other
type: Population
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allele frequency: 3.888888888888889e-2
allele num: 180
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East Asian
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European (Finnish)
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South Asian
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allele frequency: 1.742021276595745e-2
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African
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allele count: 7
allele frequency: 3.691983122362869e-3
allele num: 1896
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European (Non-Finnish)
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allele count: 127
allele frequency: 1.696047008547008e-2
allele num: 7488
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

FS
type: SiteQuality
SIO_000300: 5.4e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

DP
type: SiteQuality
SIO_000300: 2.38851e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele frequency: 1.345532831001076e-4
allele num: 7432
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1878
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Latino
type: Population
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South Asian
type: Population
allele count: 0
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allele num: 7366
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-2

ClippingRankSum
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.693e1

VQSLOD
type: SiteQuality
SIO_000300: -5.039e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

DP
type: SiteQuality
SIO_000300: 2.2487e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 9.65e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.600748955782803e-5
allele num: 55544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4750
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.626050420168067e-4
allele num: 7616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

QD
type: SiteQuality
SIO_000300: 1.159e1

DP
type: SiteQuality
SIO_000300: 1.020383e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

FS
type: SiteQuality
SIO_000300: 9.234999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.515e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.741e0

GenotypeQuality
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bin: 2.25e1
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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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.54380606986066e-5
allele num: 10478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4730
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55860
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.027179e6

VQSLOD
type: SiteQuality
SIO_000300: -1.343e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.4927e1

QD
type: SiteQuality
SIO_000300: 2.491e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10566
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.7665971805109e-5
allele num: 56606
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4850
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.726e0

FS
type: SiteQuality
SIO_000300: 1.8404e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.072364e6

QD
type: SiteQuality
SIO_000300: 9.300000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.626e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.034e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 382
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GenotypeQuality
all individuals: 1422
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7858
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.257229067136032e-4
allele num: 7954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57242
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.416e0

MQ
type: SiteQuality
SIO_000300: 5.395e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.036e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

DP
type: SiteQuality
SIO_000300: 1.112125e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: -9.122e-1

GenotypeQuality
all individuals: 1455
bin: 7.25e1
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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variant carriers: 131

GenotypeQuality
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GenotypeQuality
all individuals: 348
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GenotypeQuality
all individuals: 1519
bin: 4.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57386
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.821169277799006e-4
allele num: 10468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

African
type: Population
allele count: 131
allele frequency: 1.63709072731817e-2
allele num: 8002
num of homozygotes: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.203018590097552e-5
allele num: 10866
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 1.12252e6

QD
type: SiteQuality
SIO_000300: 1.46e1

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 569
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GenotypeQuality
all individuals: 1008
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.868460388639761e-4
allele num: 10704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58850
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

FS
type: SiteQuality
SIO_000300: 1.795e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.337e1

DP
type: SiteQuality
SIO_000300: 1.21107e6

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

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
all individuals: 374
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GenotypeQuality
all individuals: 410
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.377410468319559e-3
allele num: 726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.097706032285471e-5
allele num: 58850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.795e0

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.21107e6

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59454
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5290
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South Asian
type: Population
allele count: 1
allele frequency: 8.554319931565441e-5
allele num: 11690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.18e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.68e0

DP
type: SiteQuality
SIO_000300: 1.236668e6

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.15e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.196744853997128e-4
allele num: 8356
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59778
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.250247e6

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.1e-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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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5404
num of homozygotes: 0

Other
type: Population
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Latino
type: Population
allele count: 2
allele frequency: 1.837559720690923e-4
allele num: 10884
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African
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East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8208
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60104
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 1.9442e1

QD
type: SiteQuality
SIO_000300: 2.965e1

DP
type: SiteQuality
SIO_000300: 1.264995e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

GenotypeQuality
all individuals: 562
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1671
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.655903295247558e-4
allele num: 12078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10900
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

QD
type: SiteQuality
SIO_000300: 3.503e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.965e0

DP
type: SiteQuality
SIO_000300: 1.270831e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.371e0

FS
type: SiteQuality
SIO_000300: 1.1625e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2747
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2024
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28921
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.172332942555686e-4
allele num: 8530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-2

FS
type: SiteQuality
SIO_000300: 5.368e0

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

DP
type: SiteQuality
SIO_000300: 1.274618e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

MQ
type: SiteQuality
SIO_000300: 5.901e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.81e0

GenotypeQuality
all individuals: 451
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1578
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6034
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29351
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.170138076293003e-4
allele num: 8546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5472
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.157e0

FS
type: SiteQuality
SIO_000300: 1.3542e1

MQ
type: SiteQuality
SIO_000300: 4.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

QD
type: SiteQuality
SIO_000300: 6.24e0

MQRankSum
type: SiteQuality
SIO_000300: -6.665e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.91e-1

DP
type: SiteQuality
SIO_000300: 1.279959e6