5-149759217-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759217
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759217
    reference: chr 5
allele count: 5
allele frequency: 4.129705799758825e-5
allele num: 121074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2781G>A
  hgvsp: ENST00000394269.3:c.2781G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2781G>A
  hgvsp: ENST00000377797.3:c.2781G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1581G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2781G>A
  hgvsp: ENST00000427724.2:c.2781G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2550G>A
  hgvsp: ENST00000323668.7:c.2550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11737G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2781G>A
  hgvsp: ENST00000439160.2:c.2781G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2550G>A
  hgvsp: ENST00000445265.2:c.2550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4035G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.256G>A
  hgvsp: ENST00000506767.1:c.256G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2781G>A
  hgvsp: ENST00000513346.1:c.2781G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2781G>A
  hgvsp: ENST00000451292.1:c.2781G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2781G>A
  hgvsp: ENST00000504761.2:c.2781G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly927Gly
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

5-149759219-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759219
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759219
    reference: chr 5
allele count: 6
allele frequency: 4.955319535521382e-5
allele num: 121082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2552A>G
  hgvsp: ENSP00000325223.6:p.Lys851Arg
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2783A>G
  hgvsp: ENSP00000367028.3:p.Lys928Arg
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2783A>G
  hgvsp: ENSP00000390717.2:p.Lys928Arg
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1583A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2552A>G
  hgvsp: ENSP00000409944.2:p.Lys851Arg
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4037A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2783A>G
  hgvsp: ENSP00000427484.1:p.Lys928Arg
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.258A>G
  hgvsp: ENSP00000426587.1:p.Lys87Arg
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2783A>G
  hgvsp: ENSP00000400939.1:p.Lys928Arg
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11739A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2783A>G
  hgvsp: ENSP00000421655.2:p.Lys928Arg
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2783A>G
  hgvsp: ENSP00000377811.3:p.Lys928Arg
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2783A>G
  hgvsp: ENSP00000406888.2:p.Lys928Arg
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.1A>G
  hgvsp: ENST00000513538.1:c.1A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys928Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD

5-149759234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759234
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759234
    reference: chr 5
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2798G>A
  hgvsp: ENSP00000367028.3:p.Gly933Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2798G>A
  hgvsp: ENSP00000400939.1:p.Gly933Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4052G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.273G>A
  hgvsp: ENSP00000426587.1:p.Gly92Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2798G>A
  hgvsp: ENSP00000377811.3:p.Gly933Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2567G>A
  hgvsp: ENSP00000325223.6:p.Gly856Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1598G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11754G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2798G>A
  hgvsp: ENSP00000406888.2:p.Gly933Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.16G>A
  hgvsp: ENSP00000422567.1:p.Gly6Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2798G>A
  hgvsp: ENSP00000421655.2:p.Gly933Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2798G>A
  hgvsp: ENSP00000427484.1:p.Gly933Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2798G>A
  hgvsp: ENSP00000390717.2:p.Gly933Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2567G>A
  hgvsp: ENSP00000409944.2:p.Gly856Glu
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly933Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

5-149759249-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759249
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759249
    reference: chr 5
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2582A>T
  hgvsp: ENSP00000409944.2:p.Glu861Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2813A>T
  hgvsp: ENSP00000421655.2:p.Glu938Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2813A>T
  hgvsp: ENSP00000390717.2:p.Glu938Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.288A>T
  hgvsp: ENSP00000426587.1:p.Glu97Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2813A>T
  hgvsp: ENSP00000377811.3:p.Glu938Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2813A>T
  hgvsp: ENSP00000427484.1:p.Glu938Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11769A>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.31A>T
  hgvsp: ENSP00000422567.1:p.Glu11Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2813A>T
  hgvsp: ENSP00000400939.1:p.Glu938Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1613A>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2813A>T
  hgvsp: ENSP00000406888.2:p.Glu938Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2813A>T
  hgvsp: ENSP00000367028.3:p.Glu938Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4067A>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2582A>T
  hgvsp: ENSP00000325223.6:p.Glu861Val
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu938Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

5-149759253-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759253
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759253
    reference: chr 5
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1617A>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11773A>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2817A>T
  hgvsp: ENST00000377797.3:c.2817A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.35A>T
  hgvsp: ENST00000513538.1:c.35A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2817A>T
  hgvsp: ENST00000427724.2:c.2817A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.292A>T
  hgvsp: ENST00000506767.1:c.292A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2586A>T
  hgvsp: ENST00000323668.7:c.2586A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2817A>T
  hgvsp: ENST00000439160.2:c.2817A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2817A>T
  hgvsp: ENST00000513346.1:c.2817A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2586A>T
  hgvsp: ENST00000445265.2:c.2586A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2817A>T
  hgvsp: ENST00000504761.2:c.2817A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2817A>T
  hgvsp: ENST00000394269.3:c.2817A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4071A>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2817A>T
  hgvsp: ENST00000451292.1:c.2817A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser939Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

5-149759264-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759264
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759264
    reference: chr 5
allele count: 4
allele frequency: 3.346104298070971e-5
allele num: 119542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2828G>A
  hgvsp: ENSP00000377811.3:p.Gly943Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.303G>A
  hgvsp: ENSP00000426587.1:p.Gly102Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2828G>A
  hgvsp: ENSP00000367028.3:p.Gly943Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1628G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2597G>A
  hgvsp: ENSP00000325223.6:p.Gly866Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.46G>A
  hgvsp: ENSP00000422567.1:p.Gly16Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2597G>A
  hgvsp: ENSP00000409944.2:p.Gly866Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2828G>A
  hgvsp: ENSP00000390717.2:p.Gly943Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2828G>A
  hgvsp: ENSP00000421655.2:p.Gly943Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2828G>A
  hgvsp: ENSP00000427484.1:p.Gly943Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2828G>A
  hgvsp: ENSP00000406888.2:p.Gly943Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4082G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2828G>A
  hgvsp: ENSP00000400939.1:p.Gly943Glu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11784G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10585
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly943Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-149759270-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759270
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759270
    reference: chr 5
allele count: 1
allele frequency: 8.425877555147369e-6
allele num: 118682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1634C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.309C>T
  hgvsp: ENSP00000426587.1:p.Ala104Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2834C>T
  hgvsp: ENSP00000367028.3:p.Ala945Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2603C>T
  hgvsp: ENSP00000325223.6:p.Ala868Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2834C>T
  hgvsp: ENSP00000406888.2:p.Ala945Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4088C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2834C>T
  hgvsp: ENSP00000377811.3:p.Ala945Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11790C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2834C>T
  hgvsp: ENSP00000427484.1:p.Ala945Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2834C>T
  hgvsp: ENSP00000390717.2:p.Ala945Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2834C>T
  hgvsp: ENSP00000421655.2:p.Ala945Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.52C>T
  hgvsp: ENSP00000422567.1:p.Ala18Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2834C>T
  hgvsp: ENSP00000400939.1:p.Ala945Val
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2603C>T
  hgvsp: ENSP00000409944.2:p.Ala868Val
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9934
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala945Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

5-149759272-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759272
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759272
    reference: chr 5
allele count: 2
allele frequency: 1.692333728211203e-5
allele num: 118180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2836C>T
  hgvsp: ENSP00000427484.1:p.Pro946Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2836C>T
  hgvsp: ENSP00000390717.2:p.Pro946Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2836C>T
  hgvsp: ENSP00000406888.2:p.Pro946Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2605C>T
  hgvsp: ENSP00000409944.2:p.Pro869Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11792C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2836C>T
  hgvsp: ENSP00000377811.3:p.Pro946Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2836C>T
  hgvsp: ENSP00000421655.2:p.Pro946Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1636C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2836C>T
  hgvsp: ENSP00000400939.1:p.Pro946Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.311C>T
  hgvsp: ENSP00000426587.1:p.Pro105Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2836C>T
  hgvsp: ENSP00000367028.3:p.Pro946Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.54C>T
  hgvsp: ENSP00000422567.1:p.Pro19Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2605C>T
  hgvsp: ENSP00000325223.6:p.Pro869Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4090C>T
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro946Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

5-149759274-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759274
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759274
    reference: chr 5
allele count: 2
allele frequency: 1.699957501062473e-5
allele num: 117650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.56G>A
  hgvsp: ENST00000513538.1:c.56G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2838G>A
  hgvsp: ENST00000451292.1:c.2838G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2838G>A
  hgvsp: ENST00000427724.2:c.2838G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2607G>A
  hgvsp: ENST00000323668.7:c.2607G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2838G>A
  hgvsp: ENST00000377797.3:c.2838G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.313G>A
  hgvsp: ENST00000506767.1:c.313G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2838G>A
  hgvsp: ENST00000504761.2:c.2838G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2838G>A
  hgvsp: ENST00000513346.1:c.2838G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11794G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2607G>A
  hgvsp: ENST00000445265.2:c.2607G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2838G>A
  hgvsp: ENST00000439160.2:c.2838G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2838G>A
  hgvsp: ENST00000394269.3:c.2838G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1638G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4092G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro946Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

5-149759278-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759278
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759278
    reference: chr 5
allele count: 162
allele frequency: 1.387390164945275e-3
allele num: 116766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.60G>T
  hgvsp: ENSP00000422567.1:p.Ala21Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2842G>T
  hgvsp: ENSP00000377811.3:p.Ala948Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2842G>T
  hgvsp: ENSP00000421655.2:p.Ala948Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2842G>T
  hgvsp: ENSP00000400939.1:p.Ala948Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2842G>T
  hgvsp: ENSP00000367028.3:p.Ala948Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2611G>T
  hgvsp: ENSP00000409944.2:p.Ala871Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1642G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11798G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2842G>T
  hgvsp: ENSP00000390717.2:p.Ala948Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2611G>T
  hgvsp: ENSP00000325223.6:p.Ala871Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.317G>T
  hgvsp: ENSP00000426587.1:p.Ala107Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2842G>T
  hgvsp: ENSP00000406888.2:p.Ala948Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4096G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2842G>T
  hgvsp: ENSP00000427484.1:p.Ala948Ser
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10995
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26745
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8510
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala948Ser
num of homozygotes: 2
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

5-149759290-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759290
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759290
    reference: chr 5
allele count: 1
allele frequency: 8.923313047668338e-6
allele num: 112066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2623G>T
  hgvsp: ENSP00000409944.2:p.Ala875Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2854G>T
  hgvsp: ENSP00000390717.2:p.Ala952Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2623G>T
  hgvsp: ENSP00000325223.6:p.Ala875Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2854G>T
  hgvsp: ENSP00000421655.2:p.Ala952Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.329G>T
  hgvsp: ENSP00000426587.1:p.Ala111Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2854G>T
  hgvsp: ENSP00000367028.3:p.Ala952Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2854G>T
  hgvsp: ENSP00000377811.3:p.Ala952Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.72G>T
  hgvsp: ENSP00000422567.1:p.Ala25Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4108G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2854G>T
  hgvsp: ENSP00000400939.1:p.Ala952Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1654G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2854G>T
  hgvsp: ENSP00000427484.1:p.Ala952Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11810G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2854G>T
  hgvsp: ENSP00000406888.2:p.Ala952Ser
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala952Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

5-149759296-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759296
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759296
    reference: chr 5
allele count: 1
allele frequency: 9.131252625235129e-6
allele num: 109514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+1G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+1G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2859+1G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11816G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+1G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+1G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2859+1G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+1G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+1G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.77+1G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2859+1G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+1G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+1G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4114G>C
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2859+1G>C
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

5-149759302-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759302
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759303
    reference: chr 5
allele count: 2
allele frequency: 1.883593897155773e-5
allele num: 106180
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.77+9dupT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+9dupT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4122dupT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+9dupT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+9dupT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+9dupT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2859+9dupT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+9dupT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2859+9dupT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+9dupT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2859+9dupT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+9dupT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+9dupT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11824dupT
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2859+9dupT
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

5-149759303-T-TAAGCTGAAGAAAACCTTAAACAACAAGTATC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759303
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759334
    reference: chr 5
allele count: 1
allele frequency: 9.419033983874614e-6
allele num: 106168
alternate allele: TAAGCTGAAGAAAACCTTAAACAACAAGTATC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 14756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

5-149759305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759305
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759305
    reference: chr 5
allele count: 1
allele frequency: 9.477056047309464e-6
allele num: 105518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+10G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2859+10G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11825G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4123G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2859+10G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2859+10G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+10G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+10G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+10G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+10G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+10G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+10G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+10G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.77+10G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-149759306-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759306
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759306
    reference: chr 5
allele count: 1
allele frequency: 9.567729960389597e-6
allele num: 104518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+11C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+11C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+11C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+11C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+11C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4124C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+11C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2859+11C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2859+11C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+11C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+11C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2859+11C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11826C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.77+11C>A
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13240
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

5-149759310-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759310
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759310
    reference: chr 5
allele count: 2
allele frequency: 1.945184695286817e-5
allele num: 102818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4128G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11830G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2859+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2859+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2859+15G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.77+15G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8114
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-149759316-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759316
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759316
    reference: chr 5
allele count: 10
allele frequency: 9.888067080647076e-5
allele num: 101132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2859+21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11836G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4134G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2859+21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.77+21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2859+21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+21G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8600
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8742
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20489
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

5-149759319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759319
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759319
    reference: chr 5
allele count: 1
allele frequency: 9.999400035997841e-6
allele num: 100006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+24C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+24C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4137C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11839C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+24C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2859+24C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+24C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+24C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+24C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2859+24C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2859+24C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+24C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.77+24C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+24C>T
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-149759321-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759321
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759321
    reference: chr 5
allele count: 137
allele frequency: 1.387313674659754e-3
allele num: 98752
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+26A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+26A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4139A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+26A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2859+26A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+26A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2859+26A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+26A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11841A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+26A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+26A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2859+26A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.77+26A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+26A>G
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22092
  bin: 1.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 9271
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 1.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 2.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

5-149759326-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759326
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759326
    reference: chr 5
allele count: 1
allele frequency: 1.021513065152103e-5
allele num: 97894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+31C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4144C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+31C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+31C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2859+31C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.77+31C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+31C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+31C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2859+31C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+31C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+31C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2859+31C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11846C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+31C>T
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

5-149759328-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759328
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759328
    reference: chr 5
allele count: 2
allele frequency: 2.071594298972489e-5
allele num: 96544
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+33C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+33C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4146C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+33C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11848C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+33C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2859+33C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.77+33C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+33C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+33C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2859+33C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+33C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2859+33C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+33C>G
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22543
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8978
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

5-149759337-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759337
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759337
    reference: chr 5
allele count: 1
allele frequency: 1.102438594170305e-5
allele num: 90708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2859+42C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4155C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+42C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+42C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+42C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.77+42C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2859+42C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+42C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+42C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+42C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+42C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11857C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+42C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2859+42C>T
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20920
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

5-149759342-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759342
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759342
    reference: chr 5
allele count: 21
allele frequency: 2.403846153846154e-4
allele num: 87360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+47C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4160C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+47C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11862C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2859+47C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+47C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2859+47C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+47C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+47C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+47C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+47C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+47C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2859+47C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.77+47C>T
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19744
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10891
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13800
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

5-149759344-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759344
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759344
    reference: chr 5
allele count: 365
allele frequency: 4.283132671501326e-3
allele num: 85218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2859+49G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.77+49G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+49G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2859+49G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4162G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11864G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+49G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+49G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+49G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+49G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+49G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+49G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+49G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2859+49G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 2.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14471
  bin: 7.5e0
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19185
  bin: 1.25e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 10775
  bin: 1.75e1
  variant carriers: 81
genotype quality: GenotypeQuality
num of homozygotes: 6
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

5-149759345-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759345
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759345
    reference: chr 5
allele count: 18
allele frequency: 2.108716026241799e-4
allele num: 85360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2859+50G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2859+50G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2859+50G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+50G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+50G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+50G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11865G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+50G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+50G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4163G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+50G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.77+50G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+50G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+50G>C
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10731
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19243
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14459
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

5-149759347-G-GTAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759347
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759350
    reference: chr 5
allele count: 1
allele frequency: 1.200192030724916e-5
allele num: 83320
alternate allele: GTAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+53_1659+55dupTAT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2859+53_2859+55dupTAT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4166_4168dupTAT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+53_2628+55dupTAT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+53_2628+55dupTAT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+53_2859+55dupTAT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2859+53_2859+55dupTAT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2859+53_2859+55dupTAT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+53_2859+55dupTAT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+53_2859+55dupTAT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11868_342+11870dupTAT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+53_2859+55dupTAT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+53_334+55dupTAT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.77+53_77+55dupTAT
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10696
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

5-149759347-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149759347
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149759347
    reference: chr 5
allele count: 30
allele frequency: 3.600576092174748e-4
allele num: 83320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2859+52G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+52G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+52G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+52G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.342+11867G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+52G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+52G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.77+52G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2859+52G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+52G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2859+52G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000515035
  gene symbol: TCOF1
  hgvsc: ENST00000515035.1:n.4165G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+52G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+52G>T
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19200
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10696
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 14526
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

5-149762591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149762591
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149762591
    reference: chr 5
allele count: 1
allele frequency: 1.546072974644403e-4
allele num: 6468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3296C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13715C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3296C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3296C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3296C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2860-34C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3296C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3296C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3296C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3296C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2860-34C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.78-37C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-710C>T
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-149762598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149762598
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149762598
    reference: chr 5
allele count: 165
allele frequency: 2.235166621511785e-2
allele num: 7382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2860-27G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.78-30G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3303G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3303G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13708G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3303G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3303G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3303G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3303G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2860-27G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3303G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-703G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3303G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 1.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 7.5e0
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 6
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

5-149762603-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149762603
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149762603
    reference: chr 5
allele count: 1
allele frequency: 1.246261216350947e-4
allele num: 8024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-698T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3308T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2860-22T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2860-22T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3308T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3308T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3308T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3308T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.78-25T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13703T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3308T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3308T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3308T>C
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

5-149762609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149762609
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149762609
    reference: chr 5
allele count: 16
allele frequency: 1.809954751131222e-3
allele num: 8840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2860-16G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.78-19G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3314G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3314G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3314G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-692G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3314G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3314G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3314G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2860-16G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3314G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3314G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13697G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

5-149762628-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149762628
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149762628
    reference: chr 5
allele count: 4
allele frequency: 3.541703559412077e-4
allele num: 11294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3333G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2863G>A
  hgvsp: ENSP00000427484.1:p.Asp955Asn
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3333G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13678G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3333G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3333G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.78G>A
  hgvsp: ENSP00000422567.1:p.Asp27Asn
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2863G>A
  hgvsp: ENSP00000400939.1:p.Asp955Asn
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-673G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3333G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3333G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3333G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3333G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: missense
filter: PASS
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: 76
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp955Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

5-149762645-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149762645
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149762645
    reference: chr 5
allele count: 1
allele frequency: 8.347245409015025e-5
allele num: 11980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13661T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3350T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3350T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3350T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2880T>G
  hgvsp: ENST00000513346.1:c.2880T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3350T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3350T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2880T>G
  hgvsp: ENST00000451292.1:c.2880T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.95T>G
  hgvsp: ENST00000513538.1:c.95T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3350T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-656T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3350T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3350T>G
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro960Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

5-149762664-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149762664
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149762664
    reference: chr 5
allele count: 1
allele frequency: 8.21962847279303e-5
allele num: 12166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3369G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13642G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3369G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2899G>A
  hgvsp: ENSP00000427484.1:p.Ala967Thr
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2899G>A
  hgvsp: ENSP00000400939.1:p.Ala967Thr
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.114G>A
  hgvsp: ENSP00000422567.1:p.Ala39Thr
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3369G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3369G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3369G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-637G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3369G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3369G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3369G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala967Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

5-149762664-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149762664
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149762664
    reference: chr 5
allele count: 1
allele frequency: 8.21962847279303e-5
allele num: 12166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2899G>T
  hgvsp: ENSP00000400939.1:p.Ala967Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3369G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3369G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.114G>T
  hgvsp: ENSP00000422567.1:p.Ala39Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3369G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-637G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3369G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2899G>T
  hgvsp: ENSP00000427484.1:p.Ala967Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13642G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3369G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3369G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3369G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3369G>T
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala967Ser
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

5-149762677-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149762677
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149762677
    reference: chr 5
allele count: 1
allele frequency: 8.208832703989493e-5
allele num: 12182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3382C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2912C>T
  hgvsp: ENSP00000427484.1:p.Pro971Leu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2912C>T
  hgvsp: ENSP00000400939.1:p.Pro971Leu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13629C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3382C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-624C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3382C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.127C>T
  hgvsp: ENSP00000422567.1:p.Pro43Leu
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3382C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3382C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3382C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3382C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3382C>T
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro971Leu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-149762684-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149762684
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149762684
    reference: chr 5
allele count: 7
allele frequency: 5.749958928864794e-4
allele num: 12174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3389G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13622G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3389G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3389G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3389G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3389G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2919G>T
  hgvsp: ENSP00000427484.1:p.Arg973Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3389G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2919G>T
  hgvsp: ENSP00000400939.1:p.Arg973Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3389G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3389G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.134G>T
  hgvsp: ENSP00000422567.1:p.Arg45Ser
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-617G>T
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg973Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/5-149762698-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149762698
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149762698
    reference: chr 5
allele count: 1
allele frequency: 8.259002312520647e-5
allele num: 12108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2933C>A
  hgvsp: ENSP00000427484.1:p.Ser978Tyr
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3403C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3403C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3403C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3403C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3403C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13608C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-603C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3403C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2933C>A
  hgvsp: ENSP00000400939.1:p.Ser978Tyr
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.148C>A
  hgvsp: ENSP00000422567.1:p.Ser50Tyr
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3403C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3403C>A
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser978Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD

5-149762714-GGAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149762714
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149762711
    reference: chr 5
allele count: 1
allele frequency: 8.362602441879912e-5
allele num: 11958
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.167_169delAGA
  hgvsp: ENSP00000422567.1:p.Glu57del
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3422_2859+3424delAGA
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2952_2954delAGA
  hgvsp: ENSP00000427484.1:p.Glu985del
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3422_2628+3424delAGA
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3422_2859+3424delAGA
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2952_2954delAGA
  hgvsp: ENSP00000400939.1:p.Glu985del
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-584_2860-582delAGA
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3422_2628+3424delAGA
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3422_2859+3424delAGA
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3422_2859+3424delAGA
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3422_334+3424delAGA
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3422_1659+3424delAGA
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13589_343-13587delAGA
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu985del
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: GGAA
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

5-149762733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149762733
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149762733
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 11310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3438C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3438C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3438C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.183C>T
  hgvsp: ENSP00000422567.1:p.Gln62Ter
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3438C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2968C>T
  hgvsp: ENSP00000400939.1:p.Gln990Ter
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3438C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13573C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-568C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3438C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3438C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3438C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2968C>T
  hgvsp: ENSP00000427484.1:p.Gln990Ter
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  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: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln990Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

5-149762739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149762739
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149762739
    reference: chr 5
allele count: 939
allele frequency: 8.442726128394173e-2
allele num: 11122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3444C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3444C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2970+4C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3444C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13567C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-562C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.185+4C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2970+4C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3444C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3444C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3444C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3444C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3444C>T
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 2.75e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 2.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.5e0
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.75e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 1.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: c.2970+4C>T
num of homozygotes: 61
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

5-149762779-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149762779
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149762779
    reference: chr 5
allele count: 1
allele frequency: 1.045587620242576e-4
allele num: 9564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3484G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3484G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3484G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2970+44G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13527G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-522G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.185+44G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3484G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2970+44G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3484G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3484G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3484G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3484G>T
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

5-149763259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149763259
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149763259
    reference: chr 5
allele count: 3
allele frequency: 1.4756517461879e-4
allele num: 20330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13047G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2970+524G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-42G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3964G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2970+524G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3964G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3964G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3964G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3964G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.186-42G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3964G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3964G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3964G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25431
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

5-149763260-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149763260
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149763260
    reference: chr 5
allele count: 1
allele frequency: 4.918839153959665e-5
allele num: 20330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3965C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3965C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13046C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3965C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3965C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.186-41C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2970+525C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3965C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-41C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3965C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3965C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3965C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2970+525C>T
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-149763262-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149763262
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149763262
    reference: chr 5
allele count: 133
allele frequency: 6.540125885129819e-3
allele num: 20336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3967G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3967G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2970+527G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3967G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3967G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-39G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13044G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3967G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.186-39G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2970+527G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3967G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3967G>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3967G>T
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 25554
  bin: 2.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 9.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 8
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

5-149763264-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149763264
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149763264
    reference: chr 5
allele count: 1
allele frequency: 4.918839153959665e-5
allele num: 20330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2970+529T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3969T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-37T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3969T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.186-37T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2970+529T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13042T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3969T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3969T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3969T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3969T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3969T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3969T>C
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25524
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff

5-149763265-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149763265
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149763265
    reference: chr 5
allele count: 1
allele frequency: 4.919323101141283e-5
allele num: 20328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3970C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3970C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3970C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13041C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3970C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2970+530C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3970C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.186-36C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-36C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3970C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3970C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3970C>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2970+530C>G
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25622
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS

5-149763265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149763265
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149763265
    reference: chr 5
allele count: 1
allele frequency: 4.919323101141283e-5
allele num: 20328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-36C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2970+530C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2970+530C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3970C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.186-36C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3970C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3970C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3970C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13041C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3970C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3970C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3970C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3970C>T
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25622
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

5-149763281-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149763281
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149763281
    reference: chr 5
allele count: 1
allele frequency: 4.915454187966968e-5
allele num: 20344
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+3986T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+3986T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.186-20T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+3986T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860-20T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+3986T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+3986T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+3986T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+3986T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2970+546T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2970+546T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+3986T>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13025T>G
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

5-149763301-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149763301
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149763301
    reference: chr 5
allele count: 1
allele frequency: 4.908216354176892e-5
allele num: 20374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+4006G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+4006G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+4006G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2970+566G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2970+566G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+4006G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+4006G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+4006G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.186G>A
  hgvsp: ENSP00000422567.1:p.Asp63Asn
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2860G>A
  hgvsp: ENSP00000377811.3:p.Asp954Asn
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+4006G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13005G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+4006G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp954Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

5-149763305-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149763305
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149763305
    reference: chr 5
allele count: 3064
allele frequency: 1.49609375e-1
allele num: 20480
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+4010A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+4010A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+4010A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+4010A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2970+570A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+4010A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.190A>G
  hgvsp: ENSP00000422567.1:p.Gln64Arg
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2864A>G
  hgvsp: ENSP00000377811.3:p.Gln955Arg
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2970+570A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-13001A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+4010A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+4010A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+4010A>G
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24811
  bin: 2.5e0
  variant carriers: 866
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 7.5e0
  variant carriers: 862
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 9.75e1
  variant carriers: 2032
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Gln955Arg
num of homozygotes: 259
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

5-149763309-GTCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149763309
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149763306
    reference: chr 5
allele count: 1
allele frequency: 4.900519455062237e-5
allele num: 20406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+4019_2859+4021delCTT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.2873_2875delCTT
  hgvsp: ENSP00000377811.3:p.Ser958del
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+4019_2628+4021delCTT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+4019_2859+4021delCTT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+4019_1659+4021delCTT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+4019_2859+4021delCTT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2970+579_2970+581delCTT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+4019_2628+4021delCTT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+4019_334+4021delCTT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2970+579_2970+581delCTT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+4019_2859+4021delCTT
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.199_201delCTT
  hgvsp: ENSP00000422567.1:p.Ser67del
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-12992_343-12990delCTT
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser958del
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: GTCT
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

5-149763328-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149763328
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149763328
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 20380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-12978G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+4033G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+4033G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.*10G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.*10G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2970+593G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+4033G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+4033G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2970+593G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+4033G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+4033G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+4033G>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+4033G>C
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26921
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

5-149763342-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149763342
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149763340
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 20388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2970+613_2970+614delTC
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+4053_2628+4054delTC
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-12958_343-12957delTC
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+4053_334+4054delTC
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+4053_2859+4054delTC
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+4053_1659+4054delTC
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.*30_*31delTC
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.*30_*31delTC
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+4053_2859+4054delTC
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+4053_2859+4054delTC
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+4053_2628+4054delTC
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+4053_2859+4054delTC
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2970+613_2970+614delTC
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: CCT
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/5-149763347-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149763347
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149763347
    reference: chr 5
allele count: 2
allele frequency: 9.805844283192783e-5
allele num: 20396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000377811
  ensembl transcript: ENST00000394269
  gene symbol: TCOF1
  hgvsc: ENST00000394269.3:c.*29C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-12959C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2859+4052C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2859+4052C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1659+4052C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2970+612C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.334+4052C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2628+4052C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000422567
  ensembl transcript: ENST00000513538
  gene symbol: TCOF1
  hgvsc: ENST00000513538.1:c.*29C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2859+4052C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2628+4052C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2970+612C>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2859+4052C>A
  variant of: http://identifiers.org/hgnc/11654
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-149767423-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149767423
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149767423
    reference: chr 5
allele count: 1
allele frequency: 8.581333882538702e-6
allele num: 116532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.335-83G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2971-42G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2629-42G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2971-42G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1660-42G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2629-42G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2860-42G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2860-42G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2860-42G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-8883G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2860-42G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

5-149767425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149767425
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149767425
    reference: chr 5
allele count: 16
allele frequency: 1.372707150088368e-4
allele num: 116558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1660-40C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-8881C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2971-40C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2860-40C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2860-40C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2860-40C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2629-40C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2860-40C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2971-40C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2629-40C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.335-81C>T
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11310
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21318
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-149767433-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149767433
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149767433
    reference: chr 5
allele count: 1
allele frequency: 8.56091088091773e-6
allele num: 116810
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-8873A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2860-32A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2860-32A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1660-32A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2629-32A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2971-32A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2860-32A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2971-32A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2629-32A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2860-32A>G
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.335-73A>G
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS

5-149767435-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149767435
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149767436
    reference: chr 5
allele count: 38
allele frequency: 3.263819699728588e-4
allele num: 116428
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2629-23dupG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2860-23dupG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1660-23dupG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2629-23dupG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.335-64dupG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2860-23dupG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2860-23dupG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2860-23dupG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2971-23dupG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-8864dupG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2971-23dupG
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11668
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21944
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15482
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

5-149767435-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149767435
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149767434
    reference: chr 5
allele count: 1
allele frequency: 8.588999209812073e-6
allele num: 116428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2860-23delG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2629-23delG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2860-23delG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.335-64delG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2971-23delG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-8864delG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2860-23delG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2971-23delG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2629-23delG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1660-23delG
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2860-23delG
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: TG
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-149767438-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149767438
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149767438
    reference: chr 5
allele count: 1
allele frequency: 8.531258531258532e-6
allele num: 117216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2860-27G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2860-27G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.335-68G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2860-27G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-8868G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1660-27G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2971-27G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2629-27G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2971-27G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2860-27G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2629-27G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

5-149767444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149767444
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149767444
    reference: chr 5
allele count: 16
allele frequency: 1.358188176971919e-4
allele num: 117804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2971-21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1660-21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2860-21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2860-21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-8862G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2860-21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2629-21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2971-21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.335-62G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2860-21G>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2629-21G>A
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11735
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
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: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

5-149767450-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149767450
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149767450
    reference: chr 5
allele count: 1
allele frequency: 8.463673911571535e-6
allele num: 118152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1660-15T>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2629-15T>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-8856T>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2971-15T>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2860-15T>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2971-15T>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2860-15T>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2860-15T>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2860-15T>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.335-56T>A
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2629-15T>A
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16053
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-149767451-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149767451
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149767451
    reference: chr 5
allele count: 3
allele frequency: 2.537040795615993e-5
allele num: 118248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2971-14T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2971-14T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2860-14T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2629-14T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2629-14T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1660-14T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-8855T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2860-14T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2860-14T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2860-14T>C
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.335-55T>C
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

5-149767461-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 149767461
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 149767461
    reference: chr 5
allele count: 1
allele frequency: 8.41609156707625e-6
allele num: 118820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000427484
  ensembl transcript: ENST00000513346
  gene symbol: TCOF1
  hgvsc: ENST00000513346.1:c.2971-4C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000367028
  ensembl transcript: ENST00000377797
  gene symbol: TCOF1
  hgvsc: ENST00000377797.3:c.2860-4C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000400939
  ensembl transcript: ENST00000451292
  gene symbol: TCOF1
  hgvsc: ENST00000451292.1:c.2971-4C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000406888
  ensembl transcript: ENST00000439160
  gene symbol: TCOF1
  hgvsc: ENST00000439160.2:c.2860-4C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426587
  ensembl transcript: ENST00000506767
  gene symbol: TCOF1
  hgvsc: ENST00000506767.1:c.335-45C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000390717
  ensembl transcript: ENST00000427724
  gene symbol: TCOF1
  hgvsc: ENST00000427724.2:c.2860-4C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000409944
  ensembl transcript: ENST00000445265
  gene symbol: TCOF1
  hgvsc: ENST00000445265.2:c.2629-4C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000421655
  ensembl transcript: ENST00000504761
  gene symbol: TCOF1
  hgvsc: ENST00000504761.2:c.2860-4C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000325223
  ensembl transcript: ENST00000323668
  gene symbol: TCOF1
  hgvsc: ENST00000323668.7:c.2629-4C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl transcript: ENST00000514442
  gene symbol: TCOF1
  hgvsc: ENST00000514442.1:n.1660-4C>T
  variant of: http://identifiers.org/hgnc/11654
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070814
  ensembl protein: ENSP00000426471
  ensembl transcript: ENST00000515516
  gene symbol: TCOF1
  hgvsc: ENST00000515516.1:c.343-8845C>T
  variant of: http://identifiers.org/hgnc/11654
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2860-4C>T
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 203
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 384
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40675
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1868
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6484
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 8007
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 4
allele frequency: 4.628558204119417e-4
allele num: 8642
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

QD
type: SiteQuality
SIO_000300: 1.182e1

DP
type: SiteQuality
SIO_000300: 2.058381e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

MQRankSum
type: SiteQuality
SIO_000300: 5.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.967e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeDepth
all individuals: 440
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 190
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 475
bin: 7.75e1
variant carriers: 3

GenotypeDepth
all individuals: 391
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 299
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11194
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8008
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40758
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6475
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 275
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.186721991701245e-4
allele num: 11568
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e-1

FS
type: SiteQuality
SIO_000300: 6.791e0

DP
type: SiteQuality
SIO_000300: 2.058031e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

QD
type: SiteQuality
SIO_000300: 1.477e1

GenotypeDepth
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2316
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 390
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 438
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11156
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10684
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40842
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7971
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6455
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504528631179851e-5
allele num: 66466
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 9.829000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -5.707e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.167e0

QD
type: SiteQuality
SIO_000300: 1.134e1

DP
type: SiteQuality
SIO_000300: 2.055992e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6438
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506886471173262e-5
allele num: 66362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
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
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.279e0

QD
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SIO_000300: 6.24e0

InbreedingCoeff
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SIO_000300: -2.0e-4

BaseQRankSum
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SIO_000300: -2.782e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ClippingRankSum
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DP
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SIO_000300: 2.049304e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508250128201261e-5
allele num: 66302
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 2.046152e6

VQSLOD
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SIO_000300: -1.008e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.148e1

FS
type: SiteQuality
SIO_000300: 2.859e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 289
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65788
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.508156463778285e-4
allele num: 11402
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

DP
type: SiteQuality
SIO_000300: 2.018467e6

QD
type: SiteQuality
SIO_000300: 1.158e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.449e0

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.917e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530081400330498e-5
allele num: 65356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

MQRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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SIO_000300: 1.812e0

QD
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MQ
type: SiteQuality
SIO_000300: 5.883e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
SIO_000300: 1.991833e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 2
allele frequency: 2.354048964218456e-4
allele num: 8496
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65116
num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

South Asian
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MQ
type: SiteQuality
SIO_000300: 5.808e1

InbreedingCoeff
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DP
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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FS
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.554e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.08499151627333e-5
allele num: 64830
num of homozygotes: 0

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

Latino
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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
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 7.583e0

InbreedingCoeff
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MQ
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QD
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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SIO_000300: -2.21e-1

ClippingRankSum
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SIO_000300: -3.55e-1

VQSLOD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 22

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

South Asian
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allele count: 14
allele frequency: 8.638775762063434e-4
allele num: 16206
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.318830113738942e-4
allele num: 11078
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 134
allele frequency: 1.599808978032474e-2
allele num: 8376
num of homozygotes: 2

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.087598272272459e-4
allele num: 64362
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 1.64e-2

ClippingRankSum
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SIO_000300: -1.14e-1

ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
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DP
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MQ
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BaseQRankSum
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MQRankSum
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SIO_000300: 4.48e-1

QD
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SIO_000300: 1.287e1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.616971735334066e-5
allele num: 61844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5644
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15812
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.797419e6

FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -2.637e0

QD
type: SiteQuality
SIO_000300: 1.536e1

MQ
type: SiteQuality
SIO_000300: 5.831e1

VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.65180046250413e-5
allele num: 60540
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5478
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9250
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

VQSLOD
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SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 1.722832e6

BaseQRankSum
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SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 8.029999999999999e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.301236174365647e-4
allele num: 15370
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58750
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.275e1

FS
type: SiteQuality
SIO_000300: 1.041e0

VQSLOD
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InbreedingCoeff
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SIO_000300: -2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

ReadPosRankSum
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SIO_000300: 1.04e0

DP
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SIO_000300: 1.60869e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

BaseQRankSum
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SIO_000300: 8.100000000000001e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15362
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9014
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.701722142808522e-5
allele num: 58764
num of homozygotes: 0

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

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

Other
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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VQSLOD
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BaseQRankSum
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FS
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QD
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ReadPosRankSum
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DP
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ClippingRankSum
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SIO_000300: -1.33e-1

InbreedingCoeff
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SIO_000300: -2.9e-3

MQ
type: SiteQuality
SIO_000300: 5.496e1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.711156741957563e-5
allele num: 58440
num of homozygotes: 0

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

Other
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allele num: 780
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South Asian
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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: 8944
num of homozygotes: 0

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

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

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 9362
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.726519337016575e-5
allele num: 57920
num of homozygotes: 0

InbreedingCoeff
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FS
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QD
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.325029813170796e-4
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
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QD
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

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

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

East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 6.682705159048383e-4
allele num: 14964
num of homozygotes: 0

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

Latino
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Other
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FS
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SIO_000300: 6.99e-1

VQSLOD
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ReadPosRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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SIO_000300: 5.964e1

MQRankSum
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SIO_000300: 3.22e-1

ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4774
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.800958109714368e-5
allele num: 55526
num of homozygotes: 0

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

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

Latino
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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
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Other
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQ
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BaseQRankSum
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FS
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: -5.9e-2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 5
allele frequency: 5.968011458582001e-4
allele num: 8378
num of homozygotes: 0

East Asian
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allele count: 0
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num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 4.230118443316413e-4
allele num: 4728
num of homozygotes: 0

Other
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South Asian
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allele frequency: 3.384782020037909e-4
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European (Non-Finnish)
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allele count: 121
allele frequency: 2.205694702686937e-3
allele num: 54858
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Latino
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allele frequency: 4.676174888940846e-4
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VQSLOD
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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BaseQRankSum
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QD
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FS
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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Other
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African
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European (Non-Finnish)
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South Asian
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FS
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DP
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 8104
num of homozygotes: 0

South Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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Other
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5948
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.975894092076665e-5
allele num: 50610
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4282
num of homozygotes: 0

QD
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SIO_000300: 7.67e0

FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.01e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

ClippingRankSum
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SIO_000300: 9.350000000000001e-1

MQRankSum
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SIO_000300: 1.01e-1

ReadPosRankSum
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SIO_000300: -1.2e0

DP
type: SiteQuality
SIO_000300: 1.302673e6

GenotypeDepth
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variant carriers: 1

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

South Asian
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allele count: 6
allele frequency: 4.307250538406317e-4
allele num: 13930
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.423284941645317e-4
allele num: 7026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5604
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 48794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4120
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.938521185267239e-3
allele num: 7222
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.15e-2

FS
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SIO_000300: 3.146e0

VQSLOD
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SIO_000300: 1.85e0

DP
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SIO_000300: 1.287374e6

ReadPosRankSum
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SIO_000300: 2.48e-1

MQRankSum
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SIO_000300: -1.77e-1

BaseQRankSum
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SIO_000300: 1.99e0

GenotypeDepth
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variant carriers: 7

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8

GenotypeQuality
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GenotypeQuality
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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: 15

Other
type: Population
allele count: 2
allele frequency: 3.08641975308642e-3
allele num: 648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3994
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.448645516442127e-4
allele num: 13806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5406
num of homozygotes: 0

African
type: Population
allele count: 344
allele frequency: 4.891922639362913e-2
allele num: 7032
num of homozygotes: 6

Latino
type: Population
allele count: 16
allele frequency: 2.388059701492537e-3
allele num: 6700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.099428955324152e-5
allele num: 47632
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.489e1

DP
type: SiteQuality
SIO_000300: 1.281888e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.33e-1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -5.7e-3

BaseQRankSum
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SIO_000300: 2.31e-1

VQSLOD
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SIO_000300: 6.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 4

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

Other
type: Population
allele count: 1
allele frequency: 1.529051987767584e-3
allele num: 654
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 3.351346822504294e-4
allele num: 47742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4022
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13798
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.423284941645317e-4
allele num: 7026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6700
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.263e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 5.24e0

ClippingRankSum
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SIO_000300: 4.4e-2

InbreedingCoeff
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SIO_000300: -1.19e-2

BaseQRankSum
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SIO_000300: -2.857e0

ReadPosRankSum
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SIO_000300: 2.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

DP
type: SiteQuality
SIO_000300: 1.281486e6

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.146199081426793e-5
allele num: 46594
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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FS
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MQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

QD
type: SiteQuality
SIO_000300: 1.422e1

VQSLOD
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SIO_000300: 5.22e0

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 6.009357427995021e-4
allele num: 46594
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3894
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.920560747663551e-4
allele num: 6848
num of homozygotes: 0

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

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

East Asian
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ClippingRankSum
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SIO_000300: 5.3e-2

VQSLOD
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MQ
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.280918e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 493
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 628
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GenotypeQuality
all individuals: 29
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 4.721435316336166e-4
allele num: 2118
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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DP
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MQ
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MQRankSum
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VQSLOD
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ClippingRankSum
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 8

African
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allele frequency: 1.96078431372549e-3
allele num: 510
num of homozygotes: 0

South Asian
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allele frequency: 1.889106967615309e-2
allele num: 4076
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East Asian
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allele frequency: 0.0e0
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Latino
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Other
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allele frequency: 4.878048780487805e-2
allele num: 82
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.499156829679595e-2
allele num: 2372
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DP
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SIO_000300: 1.02269e5

ReadPosRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

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

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

Latino
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Other
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South Asian
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VQSLOD
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DP
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -5.18e-2

MQ
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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SIO_000300: 1.679e1

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Non-Finnish)
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allele count: 15
allele frequency: 5.580357142857143e-3
allele num: 2688
num of homozygotes: 0

South Asian
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allele frequency: 1.939487975174554e-4
allele num: 5156
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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ClippingRankSum
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SIO_000300: 2.31e-1

ReadPosRankSum
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MQ
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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DP
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QD
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VQSLOD
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GenotypeDepth
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variant carriers: 1

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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Other
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African
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allele frequency: 7.142857142857143e-3
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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QD
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MQ
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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African
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Latino
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Other
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VQSLOD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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FS
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Finnish)
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Latino
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South Asian
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African
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European (Non-Finnish)
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MQ
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.821670428893905e-4
allele num: 3544
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 198
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

MQRankSum
type: SiteQuality
SIO_000300: 2.48e0

ReadPosRankSum
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SIO_000300: 1.11e0

BaseQRankSum
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SIO_000300: -2.382e0

QD
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SIO_000300: 9.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

DP
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SIO_000300: 1.55481e5

FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: -2.146e0

InbreedingCoeff
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SIO_000300: 4.0e-2

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.323451561672843e-4
allele num: 7556
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3552
num of homozygotes: 0

VQSLOD
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SIO_000300: -1.028e0

InbreedingCoeff
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DP
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MQRankSum
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FS
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QD
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MQ
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SIO_000300: 5.809e1

ClippingRankSum
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SIO_000300: 4.2e-2

BaseQRankSum
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SIO_000300: -2.606e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.62e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

South Asian
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allele count: 1
allele frequency: 1.324503311258278e-4
allele num: 7550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 1.408450704225352e-3
allele num: 3550
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.792114695340502e-3
allele num: 558
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 3.96e0

QD
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InbreedingCoeff
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SIO_000300: -4.07e-2

BaseQRankSum
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SIO_000300: -2.275e0

ReadPosRankSum
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SIO_000300: 4.37e-1

MQRankSum
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SIO_000300: -7.199999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

DP
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SIO_000300: 1.54032e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 68
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3536
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.319148936170213e-3
allele num: 188
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 560
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -2.126e0

ReadPosRankSum
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SIO_000300: 1.41e0

MQ
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ClippingRankSum
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MQRankSum
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DP
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InbreedingCoeff
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SIO_000300: -3.87e-2

FS
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SIO_000300: 1.171e0

QD
type: SiteQuality
SIO_000300: 7.08e0

VQSLOD
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SIO_000300: -1.236e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 26
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 1.353179972936401e-4
allele num: 7390
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.519e0

VQSLOD
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SIO_000300: 1.61e-1

BaseQRankSum
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SIO_000300: 8.84e-1

ClippingRankSum
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MQ
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SIO_000300: 5.874e1

InbreedingCoeff
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SIO_000300: -3.8e-2

ReadPosRankSum
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MQRankSum
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DP
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SIO_000300: 1.47284e5

QD
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SIO_000300: 9.880000000000001e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6946
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
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SIO_000300: 1.32304e5

MQ
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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SIO_000300: -4.04e-2

FS
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ClippingRankSum
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VQSLOD
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QD
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SIO_000300: 8.91e0

BaseQRankSum
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SIO_000300: 7.27e-1

GenotypeDepth
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variant carriers: 20

GenotypeDepth
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GenotypeDepth
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variant carriers: 213

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 816

South Asian
type: Population
allele count: 717
allele frequency: 1.050703399765533e-1
allele num: 6824
num of homozygotes: 52

Other
type: Population
allele count: 13
allele frequency: 1.048387096774194e-1
allele num: 124
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African
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allele count: 8
allele frequency: 1.444043321299639e-2
allele num: 554
num of homozygotes: 1

East Asian
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allele count: 23
allele frequency: 1.185567010309278e-1
allele num: 194
num of homozygotes: 2

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
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Latino
type: Population
allele count: 7
allele frequency: 3.932584269662921e-2
allele num: 178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 171
allele frequency: 5.268022181146026e-2
allele num: 3246
num of homozygotes: 5

VQSLOD
type: SiteQuality
SIO_000300: 5.72e0

MQRankSum
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SIO_000300: 1.72e-1

FS
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MQ
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BaseQRankSum
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QD
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SIO_000300: 1.537e1

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 2.16e-2

ClippingRankSum
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SIO_000300: -8.500000000000001e-2

DP
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SIO_000300: 1.29403e5

GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 1.756234632946962e-4
allele num: 5694
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 9.8776e4

MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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FS
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QD
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ReadPosRankSum
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MQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 2216
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.354954148959964e-4
allele num: 8942
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Other
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 8944
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

African
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allele count: 130
allele frequency: 5.871725383920506e-2
allele num: 2214
num of homozygotes: 8

European (Finnish)
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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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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.117568171658471e-4
allele num: 8948
num of homozygotes: 0

Latino
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allele num: 410
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Other
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allele num: 192
num of homozygotes: 0

FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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SIO_000300: 2.1e-1

ClippingRankSum
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DP
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 2212
num of homozygotes: 0

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

East Asian
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South Asian
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allele num: 7912
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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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VQSLOD
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QD
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FS
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 8948
num of homozygotes: 0

East Asian
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Other
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European (Finnish)
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Latino
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South Asian
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African
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MQ
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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QD
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8962
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.439024390243902e-3
allele num: 410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.580000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.337e0

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

FS
type: SiteQuality
SIO_000300: 5.305e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.43e-1

DP
type: SiteQuality
SIO_000300: 8.70215e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

GenotypeDepth
all individuals: 181
bin: 9.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 740
bin: 5.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 0
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.18e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

DP
type: SiteQuality
SIO_000300: 8.78793e5

FS
type: SiteQuality
SIO_000300: 1.522e0

VQSLOD
type: SiteQuality
SIO_000300: 5.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.736e0

QD
type: SiteQuality
SIO_000300: 1.208e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeDepth
all individuals: 279
bin: 9.25e1
variant carriers: 138

GenotypeDepth
all individuals: 310
bin: 8.75e1
variant carriers: 131

GenotypeDepth
all individuals: 700
bin: 5.25e1
variant carriers: 17

GenotypeDepth
all individuals: 412
bin: 6.75e1
variant carriers: 72

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 124

GenotypeQuality
all individuals: 204
bin: 2.75e1
variant carriers: 200

GenotypeQuality
all individuals: 21240
bin: 7.5e0
variant carriers: 439

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 24

GenotypeQuality
all individuals: 3769
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 354
bin: 1.75e1
variant carriers: 169

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 61

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 19

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 214

GenotypeQuality
all individuals: 1291
bin: 2.25e1
variant carriers: 126

GenotypeQuality
all individuals: 9253
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variant carriers: 2817

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

GenotypeQuality
all individuals: 132
bin: 7.25e1
variant carriers: 30

GenotypeQuality
all individuals: 191
bin: 6.75e1
variant carriers: 95

GenotypeQuality
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bin: 7.75e1
variant carriers: 19

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 164
bin: 8.25e1
variant carriers: 14

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 33

GenotypeQuality
all individuals: 242
bin: 6.25e1
variant carriers: 124

European (Non-Finnish)
type: Population
allele count: 1210
allele frequency: 1.334362593736215e-1
allele num: 9068
num of homozygotes: 68

South Asian
type: Population
allele count: 1164
allele frequency: 1.470068199040162e-1
allele num: 7918
num of homozygotes: 115

European (Finnish)
type: Population
allele count: 6
allele frequency: 1.578947368421053e-1
allele num: 38
num of homozygotes: 0

Latino
type: Population
allele count: 34
allele frequency: 8.25242718446602e-2
allele num: 412
num of homozygotes: 1

East Asian
type: Population
allele count: 91
allele frequency: 1.453674121405751e-1
allele num: 626
num of homozygotes: 10

African
type: Population
allele count: 529
allele frequency: 2.374326750448833e-1
allele num: 2228
num of homozygotes: 62

Other
type: Population
allele count: 30
allele frequency: 1.578947368421053e-1
allele num: 190
num of homozygotes: 3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

DP
type: SiteQuality
SIO_000300: 9.76668e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.794e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.55e-2

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

VQSLOD
type: SiteQuality
SIO_000300: 6.68e0

GenotypeDepth
all individuals: 608
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 458
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 368
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 304
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variant carriers: 0

GenotypeQuality
all individuals: 222
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variant carriers: 0

GenotypeQuality
all individuals: 1484
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variant carriers: 0

GenotypeQuality
all individuals: 25753
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GenotypeQuality
all individuals: 9102
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 363
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variant carriers: 0

GenotypeQuality
all individuals: 1647
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GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
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GenotypeQuality
all individuals: 340
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 0
bin: 5.25e1
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GenotypeQuality
all individuals: 102
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GenotypeQuality
all individuals: 163
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GenotypeQuality
all individuals: 175
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variant carriers: 0

GenotypeQuality
all individuals: 160
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 0
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9016
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

DP
type: SiteQuality
SIO_000300: 8.48454e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.13e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.81e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 1.1251e1

QD
type: SiteQuality
SIO_000300: 1.887e1

VQSLOD
type: SiteQuality
SIO_000300: -9.502e-1

GenotypeDepth
all individuals: 368
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
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variant carriers: 0

GenotypeDepth
all individuals: 842
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variant carriers: 0

GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 293
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variant carriers: 0

GenotypeQuality
all individuals: 2719
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 362
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variant carriers: 1

GenotypeQuality
all individuals: 24209
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GenotypeQuality
all individuals: 1142
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 163
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 8
bin: 3.25e1
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GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 160
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GenotypeQuality
all individuals: 9101
bin: 9.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.42e-2

MQ
type: SiteQuality
SIO_000300: 5.516e1

QD
type: SiteQuality
SIO_000300: 2.28e1

DP
type: SiteQuality
SIO_000300: 8.4486e5

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2608
bin: 9.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 899
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 7.25e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 9101
bin: 9.75e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9000
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -7.08e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -7.61e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 7.87e0

DP
type: SiteQuality
SIO_000300: 8.41334e5

MQ
type: SiteQuality
SIO_000300: 5.752e1

GenotypeDepth
all individuals: 660
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 735
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 438
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9102
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 257
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GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 222
bin: 9.25e1
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GenotypeQuality
all individuals: 120
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.75e1
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GenotypeQuality
all individuals: 159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 8.75e1
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GenotypeQuality
all individuals: 102
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.527167045741723e-4
allele num: 7914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9004
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.67e-2

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

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.82e0

FS
type: SiteQuality
SIO_000300: 6.79e-1

BaseQRankSum
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SIO_000300: -3.134e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-2

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3785
bin: 7.75e1
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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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GenotypeQuality
all individuals: 27946
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8876
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.569119723834929e-5
allele num: 63730
num of homozygotes: 0

QD
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SIO_000300: 1.103e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.044e0

VQSLOD
type: SiteQuality
SIO_000300: 6.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.909e0

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 1.644647e6

GenotypeQuality
all individuals: 1301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 16

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.136363636363636e-3
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.19656081335509e-4
allele num: 63736
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.70170553428472e-5
allele num: 11492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.650638e6

QD
type: SiteQuality
SIO_000300: 1.419e1

VQSLOD
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SIO_000300: 2.71e0

FS
type: SiteQuality
SIO_000300: 2.252e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-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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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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63902
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.121579183490354e-4
allele num: 8916
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.392e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.667239e6

QD
type: SiteQuality
SIO_000300: 5.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: -6.07e-1

FS
type: SiteQuality
SIO_000300: 4.974e0

GenotypeQuality
all individuals: 553
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variant carriers: 7

GenotypeQuality
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variant carriers: 5

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: 4

GenotypeQuality
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GenotypeQuality
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variant carriers: 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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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 30631
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3309
bin: 9.75e1
variant carriers: 8

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 9.017132551848512e-4
allele num: 8872
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.170411985018727e-4
allele num: 8544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.402377283733216e-4
allele num: 63602
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

QD
type: SiteQuality
SIO_000300: 2.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

DP
type: SiteQuality
SIO_000300: 1.676239e6

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.676239e6

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

FS
type: SiteQuality
SIO_000300: 8.76e-1

QD
type: SiteQuality
SIO_000300: 2.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.113e0

QD
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ReadPosRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
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FS
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
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SIO_000300: -2.028e0

MQRankSum
type: SiteQuality
SIO_000300: 8.05e-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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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: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64632
num of homozygotes: 0

East Asian
type: Population
allele count: 16
allele frequency: 1.860032550569635e-3
allele num: 8602
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9076
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 7.35e-1

MQ
type: SiteQuality
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DP
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InbreedingCoeff
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SIO_000300: -4.0e-4

MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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SIO_000300: -3.5e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
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
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: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.518833535844471e-4
allele num: 6584
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.929e1

QD
type: SiteQuality
SIO_000300: 1.184e1

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.021e0

FS
type: SiteQuality
SIO_000300: 6.005e0

DP
type: SiteQuality
SIO_000300: 1.697436e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10341
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32813
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3736
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2458
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3291
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1292
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.480278422273782e-4
allele num: 8620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64934
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9162
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.18e1

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 7.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.698373e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

GenotypeDepth
all individuals: 11757
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2463
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 146
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3739
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 33263
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 9.25e1
variant carriers: 0